Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3.
Human chromosome 03
Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory
Summary
Photograph of the patient showing right partial ptosis.
Image by Mohankumar Kurukumbi, Roger L Weir, Janaki Kalyanam, Mansoor Nasim, Annapurni Jayam-Trouth
Photograph of the patient showing right partial ptosis.
Photograph of the patient showing right partial ptosis. The left lid shows compensatory pseudo lid retraction because of equal innervation of the levator palpabrae superioris (Herring's law). b. Post tensilon test: Note the improvement in ptosis.
Image by Mohankumar Kurukumbi, Roger L Weir, Janaki Kalyanam, Mansoor Nasim, Annapurni Jayam-Trouth
What Is Chromosome 3p- Syndrome?
Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (2)
Human male karyotpe high resolution - Chromosome 3
Human male Karyotype after G-banding. Chromosome 3 highlighted
Image by National Human Genome Research Institute/Wikimedia
Ideogram of human chromosome 3
Selected genes, traits, and disorders associated with the chromosome listed; (blue and violet) regions reflecting the unique patterns of light and dark bands seen on human chromosomes stained to allow viewing through a light microscope; (red) the centromere, or constricted portion, of each chromosome; (yellow) chromosomal regions that vary in staining intensity and sometimes are called hererochromatin (meaning “different color”); (lines between yellow) variable regions, called stalks, that connect a very small chromosome arm (a “satellite”) to the chromosome.
Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.
Human male karyotpe high resolution - Chromosome 3
National Human Genome Research Institute/Wikimedia
Ideogram of human chromosome 3
Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.
Symptoms
Side-view illustration of a baby with microcephaly (left) compared to a baby with a typical head size
Image by Centers for Disease Control and Prevention
Side-view illustration of a baby with microcephaly (left) compared to a baby with a typical head size
Side-view illustration of a baby with microcephaly (left) compared to a baby with a typical head size
Image by Centers for Disease Control and Prevention
What Are the Signs and Symptoms of Chromosome 3p- Syndrome?
Common symptoms shared by many people with this condition include:
Growth problems both before and after birth
Feeding difficulties
Developmental delay
Poor muscle tone (hypotonia)
Intellectual disability
Ptosis
Distinctive facial features
Microcephaly and/or unusual head shape
Autism spectrum disorder
Other features that may be seen include cleft palate; extra fingers and/or toes; gastrointestinal abnormalities; seizures; hearing impairment; kidney problems; and/or congenital heart defects.
Source: Genetic and Rare Diseases (GARD) Information Center
Causes
Chromosomal deletion
Image by U.S. National Library of Medicine
Chromosomal deletion
Deletions occur when a chromosome breaks and some genetic material is lost. Deletions can be large or small, and can occur anywhere along a chromosome.
Image by U.S. National Library of Medicine
What Causes Chromosome 3p- Syndrome?
de novo mutation) and is not inherited from a parent. De novo mutations are due to a random error that occurs during the formation of egg or sperm cells, or shortly after conception. In a few cases, the deletion is inherited from a parent.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (1)
De novo mutations
Decipits the two possible ways a de novo mutation can occur. Shows how an individual (green) can acquire a mutation when both parents do not have the mutation
Image by Donald Freed, Eric L. Stevens, and Jonathan Pevsner/Wikimedia
De novo mutations
Donald Freed, Eric L. Stevens, and Jonathan Pevsner/Wikimedia
Inheritance
De novo mutations
Image by Donald Freed, Eric L. Stevens, and Jonathan Pevsner/Wikimedia
De novo mutations
Decipits the two possible ways a de novo mutation can occur. Shows how an individual (green) can acquire a mutation when both parents do not have the mutation
Image by Donald Freed, Eric L. Stevens, and Jonathan Pevsner/Wikimedia
How Is Chromosome 3p- Syndrome Inherited?
de novo mutation). However, the deletion is rarely inherited from a parent. In these cases, the deletion is passed down in an autosomal dominant manner. This means that a person with chromosome 3p- syndrome has a 50% chance with each pregnancy of passing the condition on to his or her child.
In theory, it is possible for a parent to not have the deletion in their chromosomes on a blood test, but have the deletion in some of their egg or sperm cells only. This phenomenon is called germline mosaicism. In these rare cases, it would be possible to have another child with the deletion. To our knowledge, this has not been reported with chromosome 3p- syndrome.
People interested in learning more about genetic risks to themselves or family members should speak with a genetics professional.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (3)
De novo gene birth mechanisms
This image depicts mechanisms by which de novo gene birth may occur.
Image by Branden Van Oss/Wikimedia
Mutation inherited, de novo, somatic
Caption: "Overview of categories of variation including inherited (panels A–C), de novo (panels D,E), and somatic variation (panels F,G). Inherited mutations are always transmitted through the germline (A); although a parent may also have a mosaic mutation (this combination of somatic and germline mosaicism is occasionally termed gonadal mosaicism) (B); In such cases, a child may inherit the variant as a heterozygous mutation with a more severe clinical phenotype. A parent may also have germline mosaicism that may be inherited by progeny (C); De novo mutations are operationally defined as genotypes observed in a child but not in either parent. They may originate in a parental germ cell (as may be inferred in a pedigree having multiple affected offspring) (D) or postzygotically (E); Somatic mutation may occur relatively early in development (F) or at any later time throughout the lifespan (G), generally affecting fewer cells."
Image by Donald Freed, Eric L. Stevens, and Jonathan Pevsner/Wikimedia
Chromosomal deletion
Deletions occur when a chromosome breaks and some genetic material is lost. Deletions can be large or small, and can occur anywhere along a chromosome.
Image by U.S. National Library of Medicine
De novo gene birth mechanisms
Branden Van Oss/Wikimedia
Mutation inherited, de novo, somatic
Donald Freed, Eric L. Stevens, and Jonathan Pevsner/Wikimedia
Chromosomal deletion
U.S. National Library of Medicine
Diagnosis
Human karyotype
Image by Doc. RNDr. Josef Reischig, CSc.
Human karyotype
Human karyotype (263 19) Karyotype Human 45,XY t1-17 (mosaic)
Image by Doc. RNDr. Josef Reischig, CSc.
How Is Chromosome 3p- Syndrome Diagnosed?
Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions.
FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of 3p.
Array CGH - a technology that detects deletions that are too small to be seen on karyotype.
Source: Genetic and Rare Diseases (GARD) Information Center
Additional Materials (1)
Cell Division
There are 23 pairs of homologous chromosomes in a female human somatic cell. The condensed chromosomes are viewed within the nucleus (top), removed from a cell in mitosis and spread out on a slide (right), and artificially arranged according to length (left); an arrangement like this is called a karyotype. In this image, the chromosomes were exposed to fluorescent stains for differentiation of the different chromosomes. A method of staining called “chromosome painting” employs fluorescent dyes that highlight chromosomes in different colors. (credit: National Human Genome Project/NIH)
Image by CNX Openstax
Cell Division
CNX Openstax
FISH Test
FISH Test
Also called: Fluorescence In Situ Hybridization, FISH, FISH Test for Cancer, FISH Study
Fluorescence in situ hybridization (FISH) is a laboratory technique used to detect and locate a specific DNA sequence on a chromosome. It is utilized to diagnose genetic diseases, gene mapping, and identification of chromosomal abnormalities, and may also be used to study comparisons among the chromosomes' arrangements of genes.
FISH Test
Also called: Fluorescence In Situ Hybridization, FISH, FISH Test for Cancer, FISH Study
Fluorescence in situ hybridization (FISH) is a laboratory technique used to detect and locate a specific DNA sequence on a chromosome. It is utilized to diagnose genetic diseases, gene mapping, and identification of chromosomal abnormalities, and may also be used to study comparisons among the chromosomes' arrangements of genes.
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Use the slider below to see how your results affect your
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Your result is Normal.
A normal FISH study indicates the amount of cells counted and analyzed and that no gene rearrangements were observed.
Related conditions
Fluorescence in situ hybridization (abbreviated FISH) is a laboratory technique used to detect and locate a specific DNA sequence on a chromosome. In this technique, the full set of chromosomes from an individual is affixed to a glass slide and then exposed to a “probe”—a small piece of purified DNA tagged with a fluorescent dye. The fluorescently labeled probe finds and then binds to its matching sequence within the set of chromosomes. With the use of a special microscope, the chromosome and sub-chromosomal location where the fluorescent probe bound can be seen.
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specific genes or portions of genes. This may be used for understanding a variety of chromosomal abnormalities and other genetic mutations.
FISH is useful, for example, to help a researcher or clinician identify where a particular gene falls within an individual's chromosomes. The first step is to prepare short sequences of single-stranded DNA that match a portion of the gene the researcher is looking for. These are called probes. The next step is to label these probes by attaching one of a number of colors of fluorescent dye.DNA is composed of two strands of complementary molecules that bind to each other like chemical magnets. Since the researchers' probes are single-stranded, they are able to bind to the complementary strand of DNA, wherever it may reside on a person's chromosomes. When a probe binds to a chromosome, its fluorescent tag provides a way for researchers to see its location.
Scientists use three different types of FISH probes, each of which has a different application:
Locus specific probes bind to a particular region of a chromosome. This type of probe is useful when scientists have isolated a small portion of a gene and want to determine on which chromosome the gene is located, or how many copies of a gene exist within a particular genome.
Alphoid or centromeric repeat probes are generated from repetitive sequences found in the middle of each chromosome. Researchers use these probes to determine whether an individual has the correct number of chromosomes. These probes can also be used in combination with "locus specific probes" to determine whether an individual is missing genetic material from a particular chromosome.
Whole chromosome probes are actually collections of smaller probes, each of which binds to a different sequence along the length of a given chromosome. Using multiple probes labeled with a mixture of different fluorescent dyes, scientists are able to label each chromosome in its own unique color. The resulting full-color map of the chromosome is known as a spectral karyotype. Whole chromosome probes are particularly useful for examining chromosomal abnormalities, for example, when a piece of one chromosome is attached to the end of another chromosome.
For many applications, FISH has largely been replaced by the use of microarrays. However, FISH remains useful for some tests. FISH may also be used to study comparisons among the chromosomal arrangements of genes across related species.
Fluorescence In Situ Hybridization Fact Sheet | National Human Genome Research Institute (NHGRI) [accessed on Feb 19, 2022]
Fluorescence In Situ Hybridization (FISH). Genome.gov [accessed on Feb 19, 2022]
PDQ® Adult Treatment Editorial Board. PDQ Chronic Myelogenous Leukemia Treatment. Bethesda, MD: National Cancer Institute. [accessed on Feb 19, 2022]
510669: Fluorescence in situ Hybridization (FISH), Oncology | Labcorp [accessed on Feb 19, 2022]
Blood Work | How This Provides Clues On Your Health | Leukemia & Lymphoma Society® (LLS) [accessed on Feb 18, 2022]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (41)
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
Fluorescence in situ hybridization (abbreviated FISH) is a laboratory technique used to detect and locate a specific DNA sequence on a chromosome. In this technique, the full set of chromosomes from an individual is affixed to a glass slide and then exposed to a “probe”—a small piece of purified DNA tagged with a fluorescent dye. The fluorescently labeled probe finds and then binds to its matching sequence within the set of chromosomes. With the use of a special microscope, the chromosome and sub-chromosomal location where the fluorescent probe bound can be seen.
Image by National Human Genome Research Institute
HER2 FISH on Breast Cancer
HER2 FISH on Breast Cancer
Image by Anistalista
Indian Muntjac fibroblast cells
Indian Muntjac cultured cells; DAPI nuclei, Alexa Fluor 488 Phalloidin actin, Mitotracker Red CMXRos; 63x/1.4. Imaged with ZEISS ApoTome.2, Axiocam 702 mono and Axio Imager www.zeiss.com/axiocam Sample courtesy of Michael W. Davidson, Florida State University
Image by ZEISS Microscopy/Flickr
Aspergillosis
Under a magnification of 562X, this photomicrograph, stained using a fluorescent antibody (FA) staining technique, and NOT stained using a Candida conjugate, revealed the presence of Aspergillus sp. organisms, in a case of aspergillosis.
Image by CDC/ Dr. William Kaplan
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3 Detected by Interspecies cDNA aCGH - journal.pbio.0020207.g003
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3 Detected by Interspecies cDNA array CGH
(A) Human duplication of a cluster of genes at Chromosome 5q13.3. is shown by two separate, and sometimes multiple, red BAC probe (CTD-2288G5) signals in interphase cells, with only one green BAC probe signal (RP11-1077O1) for a flanking region. Metaphase FISH shows both probes at band 5q13. The third nucleus in (A) shows four signals of the control probe (green) and eight copies of the BAC probe duplicated in the aCGH assay, consistent with the pattern expected in an S/G2 nucleus.
(B–E) Bonobo (B), chimpanzee (C), gorilla (D), and orangutan (E) interphase FISH studies all show no increased signal for the human duplicated gene cluster, with signals of comparable size for the CTD-2288G5 (red) and the flanking RP11-107701 (green) probes. Metaphase FISH analyses show the gene cluster to be in the p arm of Chromosomes 4 (corresponding to the human Chromosome 5) in both the bonobo and chimpanzee, in the q arm of Chromosome 4 (corresponding to the human Chromosome 5) in the orangutan, and in the p arm of the gorilla Chromosome 19 (syntenic regions to human Chromosomes 5 and 17).
doi:10.1371/journal.pbio.0020207.g003
Image by Fortna, A.; Kim, Y.; MacLaren, E.; Marshall, K.; Hahn, G.; Meltesen, L.; Brenton, M.; Hink, R.; Burgers, S.; Hernandez-Boussard, T.; Karimpour-Fard, A.; Glueck, D.; McGavran, L.; Berry, R.; Pollack, J.; Sikela, J. M./Wikimedia
FISH (Fluorescent In Situ Hybridization)
Scheme of the principle of the FISH (Fluorescent in situ hybridization) Experiment to localize a gene in the nucleus.
Image by MrMatze/Wikimedia
FISH for Bacterial Pathogen Identification
This figure outlines the process of fluorescence in situ hybridization (FISH) used for bacterial pathogen identification. First, a sample of the infected tissue is taken from the patient. Then an oligonucleotide that is complementary to the suspected pathogen’s genetic code is synthesized and chemically tagged with a fluorescent probe. The collected tissue sample must then be chemically treated in order to make the cell membranes permeable to the fluorescently tagged oligonucleotide. After the tissue sample is treated, the tagged complementary oligonucleotide is added. The fluorescently tagged oligonucleotide will only bind to the complementary DNA of the suspected pathogen. If the pathogen is present in the tissue sample, then the pathogen’s cells will glow/fluoresce after treatment with the tagged oligonucleotide. All other cells will not glow after treatment.
Image by Pepetps
Togopic
Ivan Akira
Magnus Manske
Timothy W. Ford/Wikimedia
Results of in situ hybridization of chromosome X and Y BAC probes
Results of in situ hybridization of chromosome X and Y BAC probes. (A) Dual color hybridization showing highly specific signals on the X (red) and Y (green) chromosomes in metaphase cells. The two diploid interphase cell nuclei from a normal male donor show the expected pair of single signals. (B) The approximate locations of the hybridization targets shown along ideograms of the human X and Y chromosomes.
Image by Joanne H. Hsu, Hui Zeng, Kalistyn H. Lemke, Aris A. Polyzos, Jingly F. Weier, Mei Wang, Anna R. Lawin-O’Brien, Heinz-Ulrich G. Weier and Benjamin O’Brien/Wikimedia
Hordeum vulgare stained by fluorescent in situ hybridization
Staining of chromosome Hordeum vulgare by Fluorescent in situ hybridization (FISH)
Image by Karol007 and Marcello002/Wikimedia
FISH versus CISH Detection
Fluorescence in situ hybridization versus chromogenic in situ hybridization
Image by Escott16/Wikimedia
FISH (technique)
Fluorescent in-situ hybridization is a process which vividly paints chromosomes or portions of chromosomes with fluorescent molecules. This technique is useful for identifying chromosomal abnormalities and for gene mapping.
Image by Thomas Ried/Wikimedia
Results of in situ hybridization of a chromosome 16 BAC probe
Results of in situ hybridization of a chromosome 16 BAC probe on metaphase spreads of ‘normal’ cells. (A) The dual color FISH results showing a normal diploid metaphase spread. The DAPI DNA counterstain is shown in gray; (B) Schematic diagram illustrating the relative positions of the chromosome 16 whole chromosome painting probe (Coatasome-16, Oncor) and the biotinylated DNA repeat probe prepared from BAC RP11-486E19 (detected with avidin-FITC, green).
Image by Joanne H. Hsu, Hui Zeng, Kalistyn H. Lemke, Aris A. Polyzos, Jingly F. Weier, Mei Wang, Anna R. Lawin-O’Brien, Heinz-Ulrich G. Weier and Benjamin O’Brien/Wikimedia
FISH human lymphocyte nucleus stained with DAPI with chromosome 13 (green) and 21 (red) centromere probes hybrydized (fluorescent in situ hybridization, FISH)
human lymphocyte nucleus stained with DAPI with chromosome 13 (green) and 21 (red) centromere probes hybrydized (fluorescent in situ hybridization, FISH)
Obraz fluorescencyjny jądra ludzkiego limfocytu barwionego diaminofenyloindolem (DAPI) z sygnałami sond swoistych dla chromosomów 13 (zielony, sonda znakowana fluoresceiną) i 21 (czerwony, sonda znakowana rodaminą), uzyskany w wyniku zastosowania techniki FISH
Image by Gregor1976/Wikimedia
MicroRNA and mRNA visualization in differentiating C1C12 cells
ViewRNA assay for detection of miR-133 microRNA (green) and myogenin mRNA (red) in differentiating C2C12 cells.
Image by Ryan Jeffs/Wikimedia
FISH Her2
Her2 gene amplification by FISH (fluorescent in situ hybridization) in breast cancer cells
Image by IrinaPav/Wikimedia
PLoSBiol3.5.Fig7ChromosomesAluFish
Human metaphase chromosomes were subjected to fluorescence in situ hybridization with a probe to the Alu Sequence (green signals)and counterstained for DNA (red).
Image by Andreas Bolzer, Gregor Kreth, Irina Solovei, Daniela Koehler, Kaan Saracoglu, Christine Fauth, Stefan Müller, Roland Eils, Christoph Cremer, Michael R. Speicher, Thomas Cremer/Wikimedia
Q-FISH workflow
General workflow for Q-FISH with cultured cells.
Image by Jclam at English Wikipedia/Wikimedia
Fluorescence in Situ Hybridization (FISH)
Video by Leukemia & Lymphoma Society/YouTube
Hybridization (microarray) | Biomolecules | MCAT | Khan Academy
Video by khanacademymedicine/YouTube
Fluorescence In Situ Hybridization (FISH)
Video by Abnova/YouTube
FISH Technique Fluorescent In Situ Hybridization HD Animation 1
Video by ПИМУ - Приволжский исследовательский мед.универ./YouTube
Microbiology: Immunofluorescence Detection of Bacteria
Video by biologycourses/YouTube
Fluorescence In Situ Hybridization (FISH)
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA sequence on a chromosome.
Image by National Human Genome Research Institute (NHGRI)
Hybridization
Hybridization is the process of combining two complementary single-stranded DNA or RNA molecules and allowing them to form a single double-stranded molecule through base pairing.
Image by National Human Genome Research Institute (NHGRI)
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3 Detected by Interspecies cDNA array CGH
(A) Human duplication of a cluster of genes at Chromosome 5q13.3. is shown by two separate, and sometimes multiple, red BAC probe (CTD-2288G5) signals in interphase cells, with only one green BAC probe signal (RP11-1077O1) for a flanking region. Metaphase FISH shows both probes at band 5q13. The third nucleus in (A) shows four signals of the control probe (green) and eight copies of the BAC probe duplicated in the aCGH assay, consistent with the pattern expected in an S/G2 nucleus.
(B–E) Bonobo (B), chimpanzee (C), gorilla (D), and orangutan (E) interphase FISH studies all show no increased signal for the human duplicated gene cluster, with signals of comparable size for the CTD-2288G5 (red) and the flanking RP11-107701 (green) probes. Metaphase FISH analyses show the gene cluster to be in the p arm of Chromosomes 4 (corresponding to the human Chromosome 5) in both the bonobo and chimpanzee, in the q arm of Chromosome 4 (corresponding to the human Chromosome 5) in the orangutan, and in the p arm of the gorilla Chromosome 19 (syntenic regions to human Chromosomes 5 and 17).
Image by Fortna, A.; Kim, Y.; MacLaren, E.; Marshall, K.; Hahn, G.; Meltesen, L.; Brenton, M.; Hink, R.; Burgers, S.; Hernandez-Boussard, T.; Karimpour-Fard, A.; Glueck, D.; McGavran, L.; Berry, R.; Pollack, J.; Sikela, J. M.
FISH18
In situ hybridization. 18p (green) and 18q (red) with subtelomeric probes showing 18p deletion in the patient with De Grouchy syndrome type I (deletion 18p)
Image by /Wikimedia
Kidney section, fluorescence microscopy
Kidney section. IHC stained with Cy3 (red), anti-GFP antibody stained with Alexa 488(green), nuclei stained with DAPI (blue). Fluorescence microscopy with ZEISS Axio Observer, Axiocam, Colibri 7. www.zeiss.com/axioobserver
Image by ZEISS Microscopy
Fish analysis di george syndrome
Figure 2. Result of FISH analysis using LSI probe (TUPLE 1) from DiGeorge/velocardiofacial syndrome critical region. TUPLE 1 (HIRA) probe was labeled in Spectrum Orange and Arylsulfatase A (ARSA) in SpectrumGreen as control. Absence of the orange signal indicates deletion of the TUPLE 1 locus at 22q11.2. Tonelli et al. Journal of Medical Case Reports 2007 1:167 doi:10.1186/1752-1947-1-167
Image by Adriano R Tonelli1 , Kalyan Kosuri1 , Sainan Wei2 and Davoren Chick1/Wikimedia
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Chromosomal Instability in Breast Cancer Cells
Visualization of the enormous degree of chromosomal instability in primary breast cancers using fluorescence in situ hybridization to identify copy number changes of specific chromosomes and oncogenes.
This image was originally submitted as part of the 2015 NCI Cancer Close Up project. This image is part of the NCI Cancer Close Up 2015 collection.
See also https://visualsonline.cancer.gov/closeup.
Image by NCI Center for Cancer Research / Thomas Ried
Mapping a Gene
Mapping the position of genes in the cell nucleus sheds light on basic principles governing the genome. Here, a single gene called Pem (purple) has been localized using fluorescence in situ hybridization. DNA is stained blue; the cell cytoplasm is stained green.
This image was originally submitted as part of the 2015 NCI Cancer Close Up project and selected for exhibit. This image is part of the NCI Cancer Close Up 2015 collection.
See also https://visualsonline.cancer.gov/closeup.
Image by NCI Center for Cancer Research / Tom Misteli
Prokaryotic Diversity
This (a) microbial mat, about one meter in diameter, grows over a hydrothermal vent in the Pacific Ocean in a region known as the “Pacific Ring of Fire.” The mat helps retain microbial nutrients. Chimneys such as the one indicated by the arrow allow gases to escape. (b) In this micrograph, bacteria are visualized using fluorescence microscopy. (credit a: modification of work by Dr. Bob Embley, NOAA PMEL, Chief Scientist; credit b: modification of work by Ricardo Murga, Rodney Donlan, CDC; scale-bar data from Matt Russell)
Image by CNX Openstax
Biofilm formed by a pathogen
A biofilm is a highly organized community of microorganisms that develops naturally on certain surfaces. These communities are common in natural environments and generally do not pose any danger to humans. Many microbes in biofilms have a positive impact on the planet and our societies. Biofilms can be helpful in treatment of wastewater, for example. This dime-sized biofilm, however, was formed by the opportunistic pathogen Pseudomonas aeruginosa. Under some conditions, this bacterium can infect wounds that are caused by severe burns. The bacterial cells release a variety of materials to form an extracellular matrix, which is stained red in this photograph. The matrix holds the biofilm together and protects the bacteria from antibiotics and the immune system. A biofilm is a highly organized community of microorganisms that develops naturally on certain surfaces. These communities are common in natural environments and generally do not pose any danger to humans. Many microbes in biofilms have a positive impact on the planet and our societies. Biofilms can be helpful in treatment of wastewater, for example. This dime-sized biofilm, however, was formed by the opportunistic pathogen Pseudomonas aeruginosa. Under some conditions, this bacterium can infect wounds that are caused by severe burns. The bacterial cells release a variety of materials to form an extracellular matrix, which is stained red in this photograph. The matrix holds the biofilm together and protects the bacteria from antibiotics and the immune system.
Image by Scott Chimileski, Ph.D., and Roberto Kolter, Ph.D., Harvard Medical School.
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Biofilm blocking fluid flow
This time-lapse movie shows that bacterial communities called biofilms can create blockages that prevent fluid flow in devices such as stents and catheters over a period of about 56 hours. This video was featured in a news release from Princeton University.
Video by NIGMS/Knut Drescher, Princeton University
5 stages of biofilm development
Stage 1, initial attachment; stage 2, irreversible attachment; stage 3, maturation I; stage 4, maturation II; stage 5, dispersion. Each stage of development in the diagram is paired with a photomicrograph of a developing Pseudomonas aeruginosa biofilm. All photomicrographs are shown to same scale
Image by D. Davis
Toxins under microscope
This digitally colorized scanning electron microscopic (SEM) image of an untreated water specimen extracted from a wild stream mainly used to control flooding during inclement weather; revealed the presence of unidentified organisms; which included bacteria; protozoa; and algae. In this particular view; a microorganism is featured; the exterior of which is covered by numerous projections imparting an appearance of a sea urchin. This microscopic pin cushion; was tethered to its surroundings by a biofilm; within which many bacteria; and amoeboid protozoa could be seen enmeshed as well.
Image by CDC/ Janice Haney Carr
Toxins
Under a magnification of 2500X, this digitally colorized scanning electron microscopic (SEM) image of an untreated water specimen extracted from a wild stream mainly used to control flooding during inclement weather, revealed the presence of unidentified organisms, which included bacteria, protozoa, and algae. In this particular view, a microorganism is featured, the exterior of which is covered by numerous projections, imparting an appearance of a sea urchin. This microscopic pincushion was tethered to its surroundings by a biofilm, within which many bacteria and amoeboid protozoa could be seen enmeshed as well. See PHIL 11781 for a greater magnification of this organism’s exterior.
Image by CDC/ Janice Haney Carr
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confocal laser scanning microscope of biofilm of Salmonella enterica (pink) and Erwinia chrysanthemi (green)
Using a confocal laser scanning microscope, microbiologist Maria Brandl examines a mixed biofilm of Salmonella enterica (pink) and Erwinia chrysanthemi (green) in soft rot lesions on cilantro leaves (blue).
Image by USDA Agricultural Research Service/Photo by Peggy Greb.
Flourescence In Situ Hybridization (FISH)
Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specifc genes or portions of genes. This is important for understanding a variety of chromosomal abnormalities and other genetic mutations. Unlike most other techniques used to study chromosomes, FISH does not have to be performed on cells that are actively dividing. This makes it a very versatile procedure. Credit: Darryl Leja, NHGRI.
Image by National Human Genome Research Institute (NHGRI) from Bethesda, MD, USA/Wikimedia
Fluorescence in situ hybridization (FISH) image of bcr/abl positive rearranged metaphase
FISH method. The chromosomes are blue in the fluorescence microscope , except for a point on one of the chromosomes, which is green and red. This is where the sequence causing one of the types of leukemia is located
Image by Pmx
In situ hybridization of the Her2 gene (unamplified)
The image shows nuclei of neoplastic cells of a breast cancer with a normal number of copies of the Her2 gene (red signals) (in green, centromere labeling signals). Technique: in situ hybridization of interphase nuclei obtained from paraffin-embedded material from breast cancer.
Image by Manuel Medina Pérez/Wikimedia
Probe
A probe is a single-stranded sequence of DNA or RNA used to search for its complementary sequence in a sample genome.
Image by National Human Genome Research Institute (NHGRI)
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
National Human Genome Research Institute
HER2 FISH on Breast Cancer
Anistalista
Indian Muntjac fibroblast cells
ZEISS Microscopy/Flickr
Aspergillosis
CDC/ Dr. William Kaplan
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3 Detected by Interspecies cDNA aCGH - journal.pbio.0020207.g003
Pepetps
Togopic
Ivan Akira
Magnus Manske
Timothy W. Ford/Wikimedia
Results of in situ hybridization of chromosome X and Y BAC probes
Joanne H. Hsu, Hui Zeng, Kalistyn H. Lemke, Aris A. Polyzos, Jingly F. Weier, Mei Wang, Anna R. Lawin-O’Brien, Heinz-Ulrich G. Weier and Benjamin O’Brien/Wikimedia
Hordeum vulgare stained by fluorescent in situ hybridization
Karol007 and Marcello002/Wikimedia
FISH versus CISH Detection
Escott16/Wikimedia
FISH (technique)
Thomas Ried/Wikimedia
Results of in situ hybridization of a chromosome 16 BAC probe
Joanne H. Hsu, Hui Zeng, Kalistyn H. Lemke, Aris A. Polyzos, Jingly F. Weier, Mei Wang, Anna R. Lawin-O’Brien, Heinz-Ulrich G. Weier and Benjamin O’Brien/Wikimedia
FISH human lymphocyte nucleus stained with DAPI with chromosome 13 (green) and 21 (red) centromere probes hybrydized (fluorescent in situ hybridization, FISH)
Gregor1976/Wikimedia
MicroRNA and mRNA visualization in differentiating C1C12 cells
Ryan Jeffs/Wikimedia
FISH Her2
IrinaPav/Wikimedia
PLoSBiol3.5.Fig7ChromosomesAluFish
Andreas Bolzer, Gregor Kreth, Irina Solovei, Daniela Koehler, Kaan Saracoglu, Christine Fauth, Stefan Müller, Roland Eils, Christoph Cremer, Michael R. Speicher, Thomas Cremer/Wikimedia
Q-FISH workflow
Jclam at English Wikipedia/Wikimedia
3:22
Fluorescence in Situ Hybridization (FISH)
Leukemia & Lymphoma Society/YouTube
8:57
Hybridization (microarray) | Biomolecules | MCAT | Khan Academy
khanacademymedicine/YouTube
5:01
Fluorescence In Situ Hybridization (FISH)
Abnova/YouTube
1:44
FISH Technique Fluorescent In Situ Hybridization HD Animation 1
Microbiology: Immunofluorescence Detection of Bacteria
biologycourses/YouTube
Fluorescence In Situ Hybridization (FISH)
National Human Genome Research Institute (NHGRI)
Hybridization
National Human Genome Research Institute (NHGRI)
FISH Confirmation of a Human-Specific Duplication of a Gene Cluster on Chromosome 5q13.3
Fortna, A.; Kim, Y.; MacLaren, E.; Marshall, K.; Hahn, G.; Meltesen, L.; Brenton, M.; Hink, R.; Burgers, S.; Hernandez-Boussard, T.; Karimpour-Fard, A.; Glueck, D.; McGavran, L.; Berry, R.; Pollack, J.; Sikela, J. M.
FISH18
/Wikimedia
Kidney section, fluorescence microscopy
ZEISS Microscopy
Fish analysis di george syndrome
Adriano R Tonelli1 , Kalyan Kosuri1 , Sainan Wei2 and Davoren Chick1/Wikimedia
Sensitive content
This media may include sensitive content
Chromosomal Instability in Breast Cancer Cells
NCI Center for Cancer Research / Thomas Ried
Mapping a Gene
NCI Center for Cancer Research / Tom Misteli
Prokaryotic Diversity
CNX Openstax
Biofilm formed by a pathogen
Scott Chimileski, Ph.D., and Roberto Kolter, Ph.D., Harvard Medical School.
0:08
Biofilm blocking fluid flow
NIGMS/Knut Drescher, Princeton University
5 stages of biofilm development
D. Davis
Toxins under microscope
CDC/ Janice Haney Carr
Toxins
CDC/ Janice Haney Carr
Sensitive content
This media may include sensitive content
confocal laser scanning microscope of biofilm of Salmonella enterica (pink) and Erwinia chrysanthemi (green)
USDA Agricultural Research Service/Photo by Peggy Greb.
Flourescence In Situ Hybridization (FISH)
National Human Genome Research Institute (NHGRI) from Bethesda, MD, USA/Wikimedia
Fluorescence in situ hybridization (FISH) image of bcr/abl positive rearranged metaphase
Pmx
In situ hybridization of the Her2 gene (unamplified)
Manuel Medina Pérez/Wikimedia
Probe
National Human Genome Research Institute (NHGRI)
Karyotype Test
Karyotype Test
Also called: Chromosome Analysis, Chromosome Karyotype, Chromosome Studies, Chromosome Testing, Karyotyping, Karyotype Genetic Test
A karyotype test is a type of genetic testing. It looks at the size, shape, and number of your chromosomes. Chromosomes are parts of cells that contain genes. If the number or structure of your chromosomes is not normal, it can indicate a genetic disease.
Karyotype Test
Also called: Chromosome Analysis, Chromosome Karyotype, Chromosome Studies, Chromosome Testing, Karyotyping, Karyotype Genetic Test
A karyotype test is a type of genetic testing. It looks at the size, shape, and number of your chromosomes. Chromosomes are parts of cells that contain genes. If the number or structure of your chromosomes is not normal, it can indicate a genetic disease.
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Use the slider below to see how your results affect your
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Your result is Normal.
A normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). Normal karyotypes for females contain two X chromosomes and are denoted 46,XX; males have both an X and a Y chromosome denoted 46,XY.
Related conditions
A karyotype test is a type of genetic testing. It looks at the size, shape, and number of chromosomes in a sample of cells from your body. Chromosomes are found in the cell nucleus, which is like the command center of a cell. Chromosomes contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works.
You inherit your chromosomes from your parents. Normally, all your cells (except for egg and sperm cells) have a set of the same 46 chromosomes. The chromosomes are grouped into 23 pairs. Each pair has two chromosomes, one coming from each parent. You may develop certain genetic disorders if your cells:
Are missing whole chromosomes or pieces of chromosomes
Have extra chromosomes or extra pieces of chromosomes
A karyotype test checks the chromosomes in your cells to:
See whether you have a full set of 46 chromosomes. Having too many or too few chromosomes can cause serious problems with health, growth, and normal development, such as Down syndrome (extra chromosome 21) and Turner syndrome (missing X chromosome).
Look for changes in the structure of chromosomes, such as broken, missing, or extra parts. These changes may cause a wide variety of problems depending on which chromosome is affected. But some changes in chromosomes don't cause problems.
Certain chromosome problems are present from birth. Chromosome problems can also develop in certain cells after birth. These problems can cause specific types of cancer.
Other names: genetic testing, chromosome testing, chromosome studies, cytogenetic analysis
A karyotype test looks for unusual changes in chromosomes. It may be used to:
Check you and/or your family members for specific chromosome problems if you:
Have a genetic disorder that runs in your family
Have symptoms that may be from a genetic disorder
Check an unborn baby for chromosome problems
Find out if abnormal chromosomes are causing problems having children, including:
Male or female infertility
Miscarriages, if you have lost two or more pregnancies before 20 weeks
Stillbirth
Help diagnose and/or make treatment decisions for certain types of cancer and blood disorders
You may need a karyotype test if:
You're planning to have children or are pregnant:
To learn whether you and/or your partner have abnormal chromosomes that you could pass on to a baby
To find out why you're having problems getting pregnant or having miscarriages
To check your unborn baby for genetic disorders, especially if the baby has a high risk for problems. The risk may be high if:
The pregnant parent is age 35 or older. The overall risk of genetic birth defects is small, but the risk increases after age 35.
Either parent has a genetic disorder, a family history of a genetic disorder, or another child with a genetic disorder.
The results of certain prenatal screening tests weren't normal.
You have a family history of a chromosomal disorder and want to know your risk for developing the disorder.
You and/or your child have symptoms of a genetic disorder. Each type of genetic disorder has different symptoms. Karyotype testing may be needed to make a diagnosis.
You've been diagnosed with certain cancers or blood disorders that often involve changes in chromosomes. These changes can affect how your disease will behave and which treatment will work best for you. Karyotype testing may be needed to help diagnose and treat conditions such as:
Leukemia
Lymphoma
Multiple myeloma
Anemia
For a karyotype test, the type of sample you provide depends on the reason for the test.
To test the chromosomes of an unborn baby, the sample may be gathered using:
Amniocentesis. This procedure collects a sample of the amniotic fluid that surrounds the unborn baby during pregnancy. The fluid contains cells from the baby that can be tested. Amniocentesis is usually done between week 15 and 20 of pregnancy.
Chorionic villus sampling (CVS). This procedure collects tissue from the chorionic villi, which are parts of the placenta that usually have the same chromosomes as the unborn baby. (The placenta is the organ that grows in the uterus to provide nutrients and oxygen to the baby.) A CVS is usually done between week 10 and 13 of pregnancy.
To test the chromosomes of adults, children, and babies, the sample may be from:
A blood test. This is the most common sample used for karyotype tests. A health care professional will use a small needle to remove a blood sample from a vein in your arm.
A buccal (cheek) swab. A health care professional will insert a swab into your mouth and rub it across the inside of your cheek to gather a sample of cells.
A bone marrow test. This test may be used if you have a certain type of cancer or blood disorder. Marrow is soft, spongy tissue found inside of bones. Most bone marrow samples are taken from the back of the hip bone.
For a CVS or amniocentesis, you may need to drink extra fluid and not urinate before your test so that your bladder is full.
A blood test or cheek swab usually don't require any preparation.
If you're having a bone marrow test, ask your provider for instructions about how to prepare.
During amniocentesis or CVS, you may feel mild stinging or cramping. Both procedures are safe, but they do have a slight risk of causing miscarriage. Talk with your provider about the risks and benefits of these tests.
A blood test has very little risk. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
A cheek swab has no risk.
After a bone marrow test, you may feel stiff or sore where the sample was taken. This usually goes away in a few days. Serious risks are rare.
A normal or negative result means that there were 46 chromosomes in the sample without any unusual changes in their structure.
An abnormal or positive result means that unusual changes in the number or structure of chromosomes were found. Abnormal results can mean many things about your health or your child's health depending on the chromosome changes that were found. Talk with your provider to learn what your results mean.
If you're thinking about having a karyotype test or have received abnormal results, it may help to talk with a genetic counselor. Genetic counselors can give you information about how genetic conditions might affect you or your family. They can help you find support services and make informed decisions about treatment or management options for a genetic disorder.
Karyotype Genetic Test: MedlinePlus Lab Test Information [accessed on Nov 05, 2018]
https://labtestsonline.org/tests/chromosome-analysis-karyotyping [accessed on Nov 05, 2018]
511035: Chromosome Analysis, Whole Blood (Constitutional) | LabCorp [accessed on Oct 03, 2018]
Chromosome Analysis, Blood (14596) [accessed on Oct 03, 2018]
Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."
Additional Materials (1)
Chromosome Analysis - karyotyping
Video by Pathology Tests Explained/YouTube
2:36
Chromosome Analysis - karyotyping
Pathology Tests Explained/YouTube
Treatment
Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.
Image by 4144132
Treatment and Prognosis varies depending on the type of condition and the age of symptom onset.
Prognosis varies depending on the type of MND and the age of symptom onset.
Image by 4144132
How Might Chromosome 3p- Syndrome Be Treated?
Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Source: Genetic and Rare Diseases (GARD) Information Center
Prognosis
Prognosis Icon
Image by mcmurryjulie/Pixabay
Prognosis Icon
Image by mcmurryjulie/Pixabay
What Is the Long-Term Outlook for People with Chromosome 3p- Syndrome?
The long-term outlook (prognosis) for people with chromosome 3p- syndrome varies from person to person. The severity of the condition and the associated signs and symptoms largely depend on the size and location of the deletion and the genes involved.
Source: Genetic and Rare Diseases (GARD) Information Center
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Chromosome 3p- Syndrome
Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3.