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Patau Syndrome Symptoms
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
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
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
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