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Trisomy 13

Table of Contents

Trisomy 13

Patau syndrome; Bartholin-Patau syndrome; Trisomy 13 syndrome

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.

Child with trisomy 13

Image by Simousbal

Summary

Trisomy13

Image by CarloDiDio/Wikimedia

Trisomy13

Trisomy13

Image by CarloDiDio/Wikimedia

What Is Trisomy 13?

Trisomy 13 is a type of chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies. In some people, only a portion of cells contains the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal chromosome pair. Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as congenital heart defects; brain or spinal cord abnormalities; very small or poorly developed eyes (microphthalmia); extra fingers or toes; cleft lip with or without cleft palate; and weak muscle tone (hypotonia). Most cases are not inherited and result from a random error during the formation of eggs or sperm in healthy parents. Trisomy 13 is diagnosed based on the symptoms, clinical exam, and confirmed by the results of a chromosome test. Due to various life-threatening medical problems, many infants with trisomy 13 do not survive past the first days or weeks of life.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (6)

Patau Syndrome - causes, symptoms, diagnosis, treatment, pathology

Video by Osmosis/YouTube

Living with Trisomy 13 (An Extra 13th Chromosome)

Video by Special Books by Special Kids/YouTube

Amnio vs. Genetic Blood Testing

Video by Lee Health/YouTube

Trisomy 13 & 18 – Pediatric Genetics | Lecturio

Video by Lecturio Medical/YouTube

Diagnostic Testing in Pregnancy

Video by Michigan Medicine/YouTube

Choosing Thomas -- Inside a family's decision to let their son live, if only for a brief time

Video by The Dallas Morning News/YouTube

12:45

Patau Syndrome - causes, symptoms, diagnosis, treatment, pathology

Osmosis/YouTube

11:44

Living with Trisomy 13 (An Extra 13th Chromosome)

Special Books by Special Kids/YouTube

1:56

Amnio vs. Genetic Blood Testing

Lee Health/YouTube

6:14

Trisomy 13 & 18 – Pediatric Genetics | Lecturio

Lecturio Medical/YouTube

2:10

Diagnostic Testing in Pregnancy

Michigan Medicine/YouTube

9:33

Choosing Thomas -- Inside a family's decision to let their son live, if only for a brief time

The Dallas Morning News/YouTube

Symptoms

Infant with rocker-bottom foot

Image by CDC/ Allan J. Ebbin, MD, MPH

Infant with rocker-bottom foot

This young infant was born with a chromosomal abnormality known as “rocker-bottom foot”, which is a musculoskeletal deformity that manifests in cases of Trisomy 13, or Patau syndrome, Trisomy 18, or Edwards syndrome, and Trisomy 9. The word trisomy means that there are three copies of the respective chromosome in each and every cell of the person’s body, rather than the normal two. Rocker-bottom foot is due to an enlarged heel bone, or calcaneus, and a pronounced convexity to the plantar surface, or sole of the foot. Rocker-bottom foot is also known as “congenital vertical talus”.

Image by CDC/ Allan J. Ebbin, MD, MPH

What Are the Signs and Symptoms of Trisomy 13?

Other features of trisomy 13 may include:

Clenched hands (with outer fingers on top of the inner fingers)
Close-set eyes
Hernias: umbilical hernia, inguinal hernia
A hole, split, or cleft in the iris of the eye (coloboma)
Low-set ears
Scalp defects such as missing skin
Seizures
Single palmar crease
Skeletal (limb) abnormalities
Small head (microcephaly)
Small lower jaw (micrognathia)
Undescended testicle (cryptorchidism)

Trisomy 13 involves multiple abnormalities, many of which are life-threatening. More than 80% of children with trisomy 13 do not survive past the first month of life. For those that do survive, complications may include:

Breathing difficulty or lack of breathing (apnea)
Deafness
Feeding problems
Heart failure
Vision problems

People with trisomy 13 who survive infancy have severe intellectual disability and developmental delays, and are at increased risk for cancers.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (3)

Full Trisomy 13 phenotype

An upper body image of a 16 year old girl with trisomy 13 showing the typical facial features of the syndrome.

Image by Rick Guidotti of Positive Exposure / https://en.m.wikipedia.org/wiki/File:Full_Trisomy_13_phenotype.png

Microphthalmia

Ilustration of Microphthalmia

Image by CDC

Sensitive content

This media may include sensitive content

Patau face

A 37 2/7 week gestational age male infant who died shortly after birth with Patau syndrome demonstrating alobar holoprosencephaly with cyclopia. A) Facial features included sloping forehead with a proboscis superior to a single central palpebral fissure.

Image by Chan A et al/Wikimedia

Full Trisomy 13 phenotype

Rick Guidotti of Positive Exposure / https://en.m.wikipedia.org/wiki/File:Full_Trisomy_13_phenotype.png

Microphthalmia

CDC

Sensitive content

This media may include sensitive content

Patau face

Chan A et al/Wikimedia

Causes

Human Egg

1

2

3

1) Human Egg 2) Fertilized by a Single Sperm 3) Human Egg with Multiple Sperm trying to penetrate the egg

Interactive by TheVisualMD

Human Egg

1

2

3

1) Human Egg 2) Fertilized by a Single Sperm 3) Human Egg with Multiple Sperm trying to penetrate the egg

1) Human Egg - Scanning Electron Microscopic image of human egg and sperm before fertilization 2) Fertilized by a Single Sperm - Scanning Electron Microscopic image of human egg with single sperm fertilization 3) Human Egg with Multiple Sperm trying to penetrate the egg - Scanning Electron Microscopic image of human egg with multiple sperm

Interactive by TheVisualMD

What Causes Trisomy 13?

Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of eggs or sperm, or very early in fetal development. This is referred to as translocation trisomy 13. This type of trisomy 13 occurs when someone has two normal copies of chromosome 13, plus an extra copy of chromosome 13 that is attached to another chromosome. Translocation trisomy 13 can be inherited. Approximately 20% of cases of trisomy 13 are caused by a translocation.

In rare cases, only part of chromosome 13 is present in three copies in each cell (rather than the full chromosome); this is called partial trisomy 13. In other rare cases, a person has an extra copy of chromosome 13 in only some of the body's cells; this is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and proportion of cells that have the extra chromosome.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (3)

Single Sperm Cell / Sperm and Egg

Single Sperm Cell / Unfertilized Human egg

1) Single Sperm Cell - A single sperm cell (length is about a third the diameter of the egg). 2) Unfertilized Human egg Of the approximately 300 million sperm cells released in an ejaculation, only 1% will reach the egg and only a single sperm will penetrate the protective layers and successfully fertilize the egg. After the union of sperm and egg, the fusion of genetic material takes place. The fertilized egg, now called a zygote, then divides into two cells after about 30 hours and four cells after 40 hours. As it divides, it is slowly carried down the fallopian tube. When it reaches the 16-cell stage, it is called a morula, and approximately 72 hours after fertilization, it reaches the uterus.

Interactive by TheVisualMD

Human Egg Cell Fertilization

SEM of ovum being fertilized.

Image by TheVisualMD

Chromosomal Abnormalities: Trisomy 21,18 & 13 – Embryology | Lecturio

Video by Lecturio Medical/YouTube

Single Sperm Cell / Unfertilized Human egg

TheVisualMD

Human Egg Cell Fertilization

TheVisualMD

5:22

Chromosomal Abnormalities: Trisomy 21,18 & 13 – Embryology | Lecturio

Lecturio Medical/YouTube

Inheritance

Genetics and Inheritance

Image by TheVisualMD

Genetics and Inheritance

Infant and his chromosomes

Image by TheVisualMD

How Is Trisomy 13 Inherited?

For a woman who has never had a pregnancy or child with a trisomy, the risk to have a pregnancy with a chromosome abnormality is associated with her age. The chance to have a baby with trisomy 13 increases with the age of the mother. For a woman who has had a previous child with trisomy 13, the recurrence risk is generally quoted as about 1% or the maternal age-related risk - whichever is higher at the time of pregnancy.

One type of trisomy 13, translocation trisomy 13, can be inherited. An unaffected parent can have a rearrangement of genetic material between chromosome 13 and another chromosome. These rearrangements are called balanced translocations because there is no extra or missing genetic material from chromosome 13. A person with a balanced translocation involving chromosome 13 has an increased chance of passing extra material from chromosome 13 to his/her children.

People interested in learning about their personal risk to have a child with a chromosome abnormality should speak with their health care provider or a genetics professional.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (2)

Trisomy 13

Image by NLM / NIH

Trisomy 13 & 18 – Pediatric Genetics | Lecturio

Video by Lecturio Medical/YouTube

Trisomy 13

NLM / NIH

6:14

Trisomy 13 & 18 – Pediatric Genetics | Lecturio

Lecturio Medical/YouTube

Diagnosis

Chromosomal Basis of Inherited Disorders

Image by CNX Openstax (credit: Andreas Blozer et al)

Chromosomal Basis of Inherited Disorders

This karyotype is of a female human. Notice that homologous chromosomes are the same size, and have the same centromere positions and banding patterns. A human male would have an XY chromosome pair instead of the XX pair shown. (credit: Andreas Blozer et al)

Image by CNX Openstax (credit: Andreas Blozer et al)

How Is Trisomy 13 Diagnosed?

While most cases of trisomy 13 occur by chance, a few cases are due to the presence of a translocation involving chromosome 13 in a parent. Parents who are at risk to have a translocation due to their family history can have a blood test called a karyotype, which can determine if a translocation is present.

Prenatal testing or screening (such as maternal blood screening, non-invasive prenatal screening, fetal ultrasound, chorionic villus sampling, or amniocentesis) is also available to determine if a current pregnancy is at risk for, or is affected by, trisomy 13 or other chromosome disorders.

People with a family history of trisomy 13 who are interested in learning about genetic screening or testing for themselves or family members are encouraged speak with a genetic counselor or other genetics professional.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (3)

Human karyotype

Human karyotype (263 19) Karyotype Human 45,XY t1-17 (mosaic)

Image by Doc. RNDr. Josef Reischig, CSc.

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

Prenatal Screening: Is It Right for You?

Video by Dartmouth-Hitchcock/YouTube

Human karyotype

Doc. RNDr. Josef Reischig, CSc.

Cell Division

CNX Openstax

34:24

Prenatal Screening: Is It Right for You?

Dartmouth-Hitchcock/YouTube

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.

{"label":"Karyotype Reference Range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"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.","conditions":[]},{"flag":"abnormal","label":{"short":"Abnormal","long":"Abnormal","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"If you have more or fewer chromosomes than 46, or if there is anything unusual about the size or shape of your chromosomes, it can mean you have a\u00a0genetic disease. <br \/>\n<br \/>\nIf you were tested because you have a certain type of cancer or blood disorder, your results can show whether or not your condition is caused by a chromosomal defect.","conditions":["Chromosome abnormalities","Sex chromosome abnormalities","45,X\/46,XY mosaicism","47,XYY syndrome","48,XXXY syndrome","48,XXYY syndrome","49,XXXXY syndrome","Down syndrome (47,XX,+21 or 47,XY,+21)","Edwards syndrome (47,XX,+18 or 47,XY,+18)","Klinefelter syndrome (47,XXY)","Patau syndrome (47,XX,+13 or 47,XY,+13)","Turner syndrome (45,X)"]}],"value":0.5}[{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
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.
1. Karyotype Genetic Test: MedlinePlus Lab Test Information [accessed on Nov 05, 2018]
2. https://labtestsonline.org/tests/chromosome-analysis-karyotyping [accessed on Nov 05, 2018]
3. 511035: Chromosome Analysis, Whole Blood (Constitutional) | LabCorp [accessed on Oct 03, 2018]
4. 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

Manage Symptoms

Image by JFJunior/Pixabay

Manage Symptoms

Image by JFJunior/Pixabay

How Might Trisomy 13 Be Treated?

Treatment for trisomy 13 is focused on managing the symptoms, and providing comfort and supportive care. Surgeries are generally withheld for the first few months of life because of the high mortality rate associated with trisomy 13. Parents and medical personnel must carefully weigh decisions about extraordinary life-prolonging measures against the severity of the neurological and physical defects that are present and the likelihood of post-surgical recovery or prolonged survival.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Living with Trisomy 13 (An Extra 13th Chromosome)

Video by Special Books by Special Kids/YouTube

11:44

Living with Trisomy 13 (An Extra 13th Chromosome)

Special Books by Special Kids/YouTube

Prognosis

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

What Is the Long-Term Outlook for People with Trisomy 13?

Breathing difficulty or lack of breathing (apnea)
Deafness
Feeding problems
Heart failure
Seizures
Vision problems

People with trisomy 13 who survive infancy have severe intellectual disability and developmental delays, and are at increased risk for cancers.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Choosing Thomas -- Inside a family's decision to let their son live, if only for a brief time

Video by The Dallas Morning News/YouTube

9:33

Choosing Thomas -- Inside a family's decision to let their son live, if only for a brief time

The Dallas Morning News/YouTube

Related HealthJournals

Prenatal Testing

Prenatal testing provides information about your baby's health before he or she is born. Some tests are routine, and some are for women at high risk. Learn how prenatal testing checks on the health of you and your baby during pregnancy.

Intellectual and Developmental Disabilities

Intellectual and Development Disabilities (IDDs) are differences, usually present at birth, that affect an individual’s physical, intellectual, and/or emotional development. The problems are usually life-long, and can affect multiple body parts or systems. Learn more about IDDs and how therapy can help.

Congenital Heart Defects

Congenital heart defects (CHD) are problems with the structure of the heart, and are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. Learn more about the symptoms, causes, treatments, and how to manage congenital heart defects.

Microcephaly

Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life.

Cryptorchidism

Cryptorchidism is the absence of at least one testicle from the scrotum. It is the most common birth defect involving the male genitalia. About 3% of full-term and 30% of premature male infants are born with one or both testicles undescended. Learn more about cryptorchidism.

Cleft Lip and Palate

During development in the early stages of pregnancy your child might develop cleft lip or cleft palate. Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. Learn about the risk factors and how cleft lip and palate are diagnosed and treated.

Mosaic Trisomy 14

Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Explore symptoms, causes, and treatment.

Trisomy 18

Trisomy 18, or Edwards syndrome, is a chromosome disorder characterized by having 3 copies of chromosome 18 instead of the usual 2 copies. Most cases are not inherited and occur sporadically (by chance). Trisomy 18 is a life-threatening condition; many affected people die before birth or within the first month of life. Learn about causes and genetics.

Mosaic Trisomy 8

Mosaic trisomy 8 is a chromosomal abnormality defined by having an extra copy of chromosome 8 in some cells of the body. It can affect many parts of the body. The signs and symptoms vary, but may include distinctive facial features; intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Explore symptoms, causes and genetics.

Mosaic Trisomy 9

Mosaic trisomy 9 is a chromosomal abnormality defined by having an extra copy of chromosome 9 in some cells of the body. It is characterized by mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Learn more.

Mosaic Trisomy 2

Mosaic trisomy 2 is a rare chromosomal abnormality defined by having an extra copy of chromosome 2 in a proportion, but not all, of a person’s cells. Many cases of mosaic trisomy 2 result in miscarriage during pregnancy. In infants born with the condition, severity as well as signs and symptoms vary widely. Explore symptoms and causes.

Down Syndrome

Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. It occurs in about 1 in 700 newborns. People with Down syndrome can have physical problems, as well as intellectual disabilities. Learn about the physical and developmental symptoms of this condition, and what therapies are used to manage it.

Trisomy X

Trisomy X syndrome, also called triple X syndrome or 47,XXX, is characterized by the presence of an additional X chromosome in each of a female's cells. Most females with triple X syndrome have normal sexual development and are able to conceive children.

Congenital Anomalies

Congenital anomalies, previously referred to as birth defects, are structural (how the body is built) or functional (how the body works) anomalies present at birth that can cause physical disability, intellectual and developmental disorders, and other health problems. Learn about structural anomalies, their causes, their prevention, and their treatments.

Genetic Disorders

A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn more about the types of genetic disorders and how they're diagnosed.

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Trisomy 13

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.

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