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Doctor insights on: Patau Syndrome Karyotype

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Whats patau syndrome?

Whats 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

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Dr. Karl Muench
22 doctors shared insights

Patau Syndrome (Definition)

Patau syndrome is a genetic disorder that occurs when a baby is born with an extra copy of chromosome 13. Children with Patau syndrome are mentally retarded and have a ...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 causes patau syndrome?

Extra chromosome 13: Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. Symptoms include polydactyly, holoprosencephaly, coloboma of the iris, scalp defect, clenched, overlapping fingers, many midline defects, severe mental retardation, short life spans(<1yr avg) ...Read more

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What exactly is patau syndrome?

What exactly is patau syndrome?

Patau Syndrome: Patau syndrome is another name for trisomy 13. Babies with trisomy 13 usually die shortly after birth. ...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 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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Are certain people more likely to get patau syndrome?

Are certain people more likely to get patau syndrome?

Rarely.: Patau syndrome is trisomy 13 - a genetically lethal syndrome that results from an extra chromosome #13. Carrier-parents of a balanced robertsonian translocation are at increaed risk for producing affected offspring - but this is the exception rather than the rule for patau syndrome. 80% of affected infants die within the first month of life; only 5% survive the first six months. ...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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What are the long-term health effects for a child with patau syndrome?

What are the long-term health effects for a child with patau syndrome?

Confusing question: 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 trisomy 13.This distorts the information in each cell of the body so many complex organs do not form properly (heart,brain defects,etc.).It cannot be fixed.These kids do not live very long. ...Read more

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What's patau syndrome?

What's patau syndrome?

Lethal Trisomy 13.: Patau syndrome refers to a perinatally lethal condition that results from an extra chromosome 13. It usually features holoprosencephaly microcephaly cyclopia proboscis midline facial clefting heart defects omphalocele poor growth clenched fists polyhydramnios kidney anomalies and single umbilical artery. Prompt pregnancy termination should be undertaken upon prenatal diagnosis if <24 weeks. ...Read more