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Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has three copies of genetic material from chromosome 13, instead of the usual two copies. Rarely, the extra material may be attached to another chromosome (translocation).
Alternative NamesPatau syndrome
Causes, incidence, and risk factorsTrisomy 13 occurs when extra DNA from chromosome 13 appears in some or all of the body's cells.
- Trisomy 13 -- the presence of an extra (third) chromosome 13 in all of the cells.
- Trisomy 13 mosaicism -- the presence of an extra chromosome 13 in some of the cells.
- Partial trisomy -- the presence of a part of an extra chromosome 13 in the cells.
The extra material interferes with normal development.
Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to Trisomy 13 occur in either the sperm or the egg that forms the fetus.
Symptoms- Cleft lip or palate
- Clenched hands (with outer fingers on top of the inner fingers)
- Close-set eyes -- eyes may actually fuse together into one
- Decreased muscle tone
- Extra fingers or toes (polydactyly)
- Hernias: umbilical hernia, inguinal hernia
- Hole, split, or cleft in the iris (coloboma)
- Low-set ears
- Mental retardation, severe
- Scalp defects (missing skin)
- Seizures
- Single palmar crease
- Skeletal (limb) abnormalities
- Small eyes
- Small head (microcephaly)
- Small lower jaw (micrognathia)
- Undescended testicle (cryptorchidism)
The infant may have a single umbilical artery at birth. There are often signs of congenital heart disease, such as:
- Abnormal placement of the heart toward the right side of the chest instead of the left
- Atrial septal defect
- Patent ductus arteriosus
- Ventricular septal defect
Gastrointestinal x-rays or ultrasound may show rotation of the internal organs.
MRI or CT scans of the head may reveal a problem with the structure of the brain. The problem is called holoprosencephaly. It is the joining together of the two sides of the brain.
Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy.
TreatmentTreatment of children with Trisomy 13 is planned on a case-by-case basis. The type of treatment given depends on the patient's individual condition.
Support GroupsSupport Organization for Trisomy 18, 13 and Related Disorders (SOFT) -- www.trisomy.org
Expectations (prognosis)The syndrome involves multiple abnormalities, many of which are not compatible with life. More than 80% of children with trisomy 13 die in the first month.
ComplicationsComplications begin almost immediately. Most infants with Trisomy 13 have congenital Heart disease.
Complications may include:
- Breathing difficulty or lack of breathing (apnea)
- Deafness
- Feeding problems
- Heart failure
- Seizures
- Vision problems
Call for an appointment with your health care provider if you have had a child with Trisomy 13, and you plan to have another child. Genetic counseling can help families understand the condition, the risk of inheriting it, and how to care for the patient.
PreventionTrisomy 13 can be diagnosed before birth by amniocentesis with chromosome studies of the amniotic cells.
Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling, which may help them avoid having another child with the condition.
What else can I help you with?
Is trisomy 13 curable?
NO
What is the presence of three of a particular chromosome?
The presence of three copies of a particular chromosome is known as trisomy. This genetic condition can lead to developmental abnormalities, such as Down syndrome which is caused by trisomy of chromosome 21.
Which chromosomes are effected in trisomy 13?
Patau syndrome is the result of trisomy 13. Trisomy 13 is usually caused by having an extra chromosome in every cell in the body. Every cell in the human body should contain two chromosomes, one from each parent, however every one in sixteen thousand newborn has three chromosomes. The result of a third chromosome can mean physical disabilities. Most children die within a few days after birth. The disease is not inherited.
What is the least-common trisomy?
Trisomy 13 Trisomy 13, or Patau�s syndrome is the least common of the live-born trisomy disorders, with an incidence of 1 in 5000 to 1 in 2,000 live births, with affected males equal to affected females. 75% of trisomy 13 cases are due to maternal NDJ, 20% are due to a translocation, and 5% are due to mosaicism. The major midline dysmorphic features of trisomy 13 are due to a defect in the fusion of the midline prechordial mesoderm in the first three weeks of gestation. Trisomy 13 tends to present with more severe craniofacial and midline defects than are found in Trisomy 18 or 21. Trisomy 13 has the following clinical features: # Holoporsencephaly # Polydactly # Seizures # Deafness # Microcephaly # Midline Cleft lip # Midline Cleft palate # Abnormal ears # Sloping forehead # Omphalocele # Cardiac and renal anomalies # Mental retardation. Trisomy 13 is also confirmed by karyotype with FISH analysis. 44% of these patients die within 1 month, and > 70% die within one year. Severe mental retardation exists in all survivors as per (http://pedclerk.bsd.uchicago.edu/chromosomalabnormalities.html)
What are alternative names for Patau syndrome?
Patau's Syndrome Trisomy 13 Syndrome Trisomy D Syndrome Trisomie 13 Trisomee Trisome Trisomic Chromosomal Abnormalities, Chromosome Anomalies, Disorder Fetal Aneuploidy
Causes of anophthalmos?
Congenital abnormality like Trisomy 13.
Is triosmy lethal or non lethal?
There are many Trisomy 18 and Trisomy 13 Living Survivors. Carrying to term, each child charts their own course, when treated to their unique medical issues.For more information you can go to SOFT Support Organization for Trisomy 18, 13 and Related Disorders. There is also the TRIsoMY Favorite Things blog in the related links below. Therese Ann, Mom to Natalia, living with full trisomy 13. Celebrating 13th Birthday in 2013.
How do you detect Trisomy 13 or Trisomy 21?
A blood test, called the AFP (alphafetoprotein) or triple screen, may help a pregnant woman find out her baby's risk of several diseases, including Trisomy 21 (Down Syndrome) and Trisomy 13, though it can not give a definite answer.
Are there cases of trisomy besides down syndrome that can survive?
My son is 3 years old with full trisomy 18. I have some videos on youtube that I've put together with lots of trisomy families I've found on facebook. My awareness video is of over 100 surviving kids of trisomy 13 and 18. Just go to youtube and search 'trisomy awareness' or trisomy advocacy' and you'll find them. There is also a website called 'livingwithtrisomy13.com' that has stories of over 100 trisomy 13 kids on it. I, also, personally know of two kids with trisomy 8. So, yes, there are cases of kids surviving trisomies other than trisomy 21 (Down Syndrome). :) Alisha Hauber
Is trisomy 13 inherited?
No, trisomy 13 is typically not inherited and instead occurs randomly during the formation of reproductive cells or early in fetal development. It is caused by the presence of an extra copy of chromosome 13 and is associated with severe developmental issues and health problems.
What is Trisomy?
A trisomy is a condition in which a person has three copies of a chromosome instead of the usual two copies. Trisomy 9 refers to three copies of chromosome 9. A person can have full trisomy 9 (three copies in every cell) or mosaic trisomy 9 (three copies in some cells but not all).
What is the cause of holoprosencephaly?
Holoprosencephaly has no single cause, but about half of all cases are associated with abnormal karyotype (abnormal numbers of chromosomes), especially trisomy 13 (extra copy of chromosome 13) and trisomy 15 (extra copy of chromosome 15).
