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Doctor insights on: Type Of Mutation Of Patau Syndrome

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How do you get patau syndrome?

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.

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...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.

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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.

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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.

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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.

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Is hemophilia linked to patau syndrome?

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).

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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.

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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).

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How is the genetic abnormality patau syndrome inherited?

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.

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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.

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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.

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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.

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What causes patau syndrome?

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)

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What causes patau syndrome?

What causes 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.

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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.

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How's patau syndrome inherited?

How's patau syndrome inherited?

Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divide properly at the time of fertilization. This accident causes a baby to get an extra number 13 chromosome in every one of its cells. Trisomy 13 is rare, but a very serious condition. Most babies with it die before birth or shortly after birth.

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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 in 1657.

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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.

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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.