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Type Of Mutation Of Patau Syndrome
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
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 moreSee 1 more doctor answer
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
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
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
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
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
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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