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Doctor insights on: Pateau Syndrome Trisomy 13

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What is the average lifespan of someone with trisomy 13, patau syndrome?

What is the average lifespan of someone with trisomy 13, patau syndrome?

Lifespan: In my clinical experience of 31 years practicing neonatal medicine, I would have to answer your question with a vague response. This is because each affected child does not necessarily have the same degree of affliction. The literature on this tells us that 99.9% die before a year of age. I have not seen one survive longer than two months, and I have seen many. ...Read more

Trisomy (Definition)

Ordinary chromosomal traits require a pair of chromosomes to determine the traits. Occasionally, as a mistake in cellular division, there is a tripling of one of the chromosomes. When these occur, they usually cause unpleasant, and sometimes deadly conditions in the inheritor of these traits (e.g. Down's). Many we do not know about as they are ...Read more


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What is the average lifespan of baby born with trisomy 13, patau syndrome?

What is the average lifespan of baby born with trisomy 13, patau syndrome?

Days/weeks.: Stillbirth (see picture) is very common. Of liveborns, 80% of affected infants die within the first month of life; only 5% survive the first six months. Severe intellectual disability, seizures, and failure to thrive are noticeable in survivors over 1 year of age. No interventions for fetal benefit are ethically justifiable during pregnancy (no cesarean section, no fetal monitoring indicated). ...Read more

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Trismoy21 1: 1067 trisomy 18 1: 2674 trisomy 13 1: 8368 does it mean my child has down sydrome?

Trismoy21 1: 1067 trisomy 18 1: 2674 trisomy 13 1: 8368 does it mean my child has down sydrome?

Unclear: The information you list provides no specific information on which to base an answer. How was the data obtained and why? Does it relate to some specific test, a pregnancy, a genetic counseling session? Questions should provide basic information on the problem and ask a clear question. The public site is not a chat room and none of your prior submissions are linked. Try again if you wish. ...Read more

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What is trisomy 13?

What is trisomy 13?

Chromosome error: Humans have 23 pairs of chromosomes (c) making up our dna.When the egg or sperm form, the (c) pairs are supposed to split up with 1 (c) of each pair going to the egg or sperm. If the 13 (c) does not split & both go into an egg, fertilization will add a 3rd from dad & a trisomy 13 will begin to form. The imbalanced (c) causes malformations, miscarriage or early death. ...Read more

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What population is affected by trisomy 13?

What population is affected by trisomy 13?

?? odd question??: Humans of any race, culture, ethnic group, social status, etc. Can have a baby with trisomy 13. ...Read more

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Interested to know how does a person inherit trisomy 13?

Interested to know how does a person inherit trisomy 13?

They don't: Trisomy 13 is a spontaneous new event that occurs when 2 #13 chromosomes in either the egg (sperm) join with the one from the opposing side. The other 22 chromosomes pass only one of each. The fetus ends up with 47 chromosomes, not the normal 46. It is not passed on the genes like eye color or other features. It is an accident of nature. ...Read more

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Is trisomy 13 dominant or recessive?

Neither: Any defect like trisomy 13, that involves acquiring an extra chromosome, has nothing to do with dominant or recessive genes. It occurs when usually the egg carries 2 rather than 1 of the 13 chromosomes. Fertilization by a normal sperm with one of every chromosome creates an embryo with three # 13's.If the embryo survives pregnancy it emerges as a trisomy 13 infant with all the problems they have. ...Read more

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Are there any specialized hospitals for trisomy 13 patients? Spealized drs?

Are there any specialized hospitals for trisomy 13 patients? Spealized drs?

Not really: If you suspect or have a confirmed pregnancy with T13 you have decisions to make. The condition is universally fatal & those who survive pregnancy live only a short time after birth. Delivery at a center that has medical genetics and neonatology can help confirm the diagnosis and allow the most time for you to can have to get acquainted with baby before the end comes. ...Read more

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Is there any hope for baby with trisomy 13?

Is there any hope for baby with trisomy 13?

No.: Trisomy 13 is a uniformly lethal genetic anomaly; affected individuals lead very short and rudimentary lives without quality. ...Read more

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Is it true that trisomy 13 caused by inbreeding?

Not true: Trisomy 13 (3 copies of chromosome 13 in all your cells) is caused by an error in the way one of your two chromosome 13s move when you make an egg or a sperm. It's called nondisjunction. When it happens, it's no one's fault. Marriage between close relatives, like 1st cousins, is common in many places in the world, and trisomy 13 is just as rare there as it is everywhere else. ...Read more

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Can radiation cause trisomy 13?

Can radiation cause trisomy 13?

Not to my knowledge: Trisomy is caused by a robertsonian translocation in the karyotype of one of the parents or by a meiotic nondisjunction event of a sperm or egg cell. 88% of time trisomy comes from nondisjunction in the maternal egg and 8% comes from nondisjunction in the paternal sperm. ...Read more

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How to know if certain people are more likely to get trisomy number 13 patau syndrome than others?

How to know if certain people are more likely to get trisomy number 13 patau syndrome than others?

Amniocentesis: Trisomy 13 can be diagnosed by amniocentesis with genetic study of the chromosomes prior to birth. ...Read more

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I heard that certain people are more likely to get trisomy number 13 patau syndrome than others, why is that?

Child of older mom: Increasing maternal age increases the risk for chromosome disorders, highlighted by trisomy 21 (down syndrome) but applying to rarer trisomies like the trisomy 13 causing patau syndrome (1 in 8000 births or so). Risks for trisomy increase gradually with maternal age, going from <1 in 2000 under 30 to ~ 1 in 50 over age 40, with age 35 arbitrarily set as high risk (~1 in 200). ...Read more

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What is patau syndrome, a trisomy?

Trisomy 13: Patau syndrome is also called trisomy 13. It occurs when a baby has 3 copies of the number 13 chromosome instead of the usual 2 copies. It causes severe physical problems and most babies with trisomy 13 die before birth or within the first year after birth. It usually happens because of an accident which occurs when the egg is fertilized, and occurs more commonly as mothers get older. ...Read more

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How do you get patau syndrome?

It's not: Patau syndrome arises from a non-disjunction event prevents the 18 chromosome from dividing its pair & sends 2, not one to the egg. At conception the sperm brings along another 18 & there ends up being 3. The presence of the extra 18 causes the developing fetus to misread the genetic instructions and many defects occur. ...Read more

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How can we treat patau syndrome?

How can we treat patau syndrome?

Supportively: Patau is a chromosomal abnormality of trisomy 13. There is no treatment of the cause but the various symptoms can be treated. For example, heart defects can be repaired, polydactyly can be corrected. However, many children live only a short time so often the goal is comfort care. ...Read more

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What is the testing process like for patau syndrome?

13 trisomy: Patau syndrome is caused by13 trisomy. It can be suspected by find the characteristic malformations including, cleft lip/palate/ eye and ear abnormalities, scalp defects, congenital heart disease and polydactyly. Definitive diagnosis is by chromosomal analysis revealing an extra 13 chromosome. Testing can be done from blood, skin, a cvs or amniocentesis sample or in tissue from a poc. ...Read more

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What is the definition or description of: Patau syndrome?

Patau syndrome: Patau syndrome is the least common and most severe of the viable autosomal trisomies. Median survival is fewer than 3 days. First was identified as a chromosomal syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. ...Read more

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How is the genetic abnormality patau syndrome inherited?

Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read more

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How is patau syndrome inherited? From mom or dad or both?

How is patau syndrome inherited? From mom or dad or both?

It's not: This and the other forms of trisomy happen by chance (new event) they are not inherited. The egg & sperm are both supposed to bring one each of the parents 23 chromosomes so the new baby has 46 (23 pairs). With trisomies, either the egg or sperm brings an extra so you have 23 pairs plus one. The extra chromosome ends up in every cell of the body and confuses the cells metabolism, causing defects. ...Read more

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What is patau syndrome cause?

What is patau syndrome cause?

Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read more

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Who discovered patau syndrome?

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas Bartholin's in 1657. ...Read more

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What are the tests for patau syndrome?

What Test: To a trained geneticist or an experienced neonatologist the clinical presentation of a child with trisomy 13 may not require any testing. However 100% confirmation of the clinical suspicion is usually provided by a karyotype test. ...Read more

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What can you tell me about patau syndrome?

What can you tell me about patau syndrome?

Chromosome defect: This syndrome results when an egg with a pair of chromosome 13 (instead of 1) joins with the male's 13 at conception leading to a distortion of the information in each cell of the body. Multiple birth defects are common and these kids do not live very long. It is not inherited on the genes. ...Read more

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What are the symptoms involved with patau syndrome?

What are the symptoms involved with patau syndrome?

Trisomy 13: Patau syndrome is also known as trisomy 13. This is an extra chromosome 13 and leads to intellectual and physical disabilities. Heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers and/or toes, cleft lip with or without a cleft palate, and weak muscle tone. Approximately 5-10% of children live beyond the first year of life. ...Read more

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Is hemophilia linked to patau syndrome?

No, not linked.: Hemophilia a and hemophilia b are caused by mutations in genes f8 and f9, respectively, on the x chromosome. Patau syndrome results from trisomy 13 (the presence of an extra #13 chromosome). ...Read more

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Are there genes to tell how long someone will survive with patau syndrome?

Are there genes to tell how long someone will survive with patau syndrome?

No: Most infants with patau syndrome die within their first year. There is no genetic test to explain the variation in survival. ...Read more

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My neighbors say my new doctor tends to overdiagnose everyone. He thinks I might have patau syndrome. Can you tell me the symptoms?

My neighbors say my new doctor tends to overdiagnose everyone. He thinks I might have patau syndrome. Can you tell me the symptoms?

Patau syndrome: The clinical features of patau syndrome are - mental and motor challenged, microcephaly (small brain), small eyes, cataract, retinal detachment, cortical visual loss, polydactyly (extra digits), low-set ears, prominent heel, deformed feet, overlapping of fingers over thumb, cutis aplasia (missing portion of the skin/hair), abnormal genitalia, kidney defects, heart defects. ...Read more

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What's patau syndrome?

What is it.: Patau's syndrome is the presence of various dysmorphic features in a child a set of three chromosomes 13. This is called trisomy, in this case, trisomy 13. ...Read more

Dr. William Singer
7 Doctors shared insights

Pateau Syndrome (Definition)

Patau syndrome is a condition caused by having an extra chromosome number 13. It is a defect in the genes, which causes a person to be born with cleft lip, small eyeballs, extra ...Read more