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| | eMedicine - Patau Syndrome : Article by Robert G Best, PhD, FACMG (Site not responding. Last check: 2007-11-04) |
 | | Age: Patau syndrome is expressed prenatally and is fully evident at birth. |
 | | Patau syndrome may occur as a freestanding trisomy of chromosome 13 or, more rarely, as a Robertsonian translocation with an extra copy of chromosome 13 attached to another acrocentric chromosome (eg, 13-15, 21, 22) or as a structural chromosome abnormality wherein only a part of chromosome 13 is duplicated. |
 | | When Patau syndrome is suspected prenatally (usually because of the presence of ultrasonographic anomalies, history of chromosome abnormalities, or maternal age), trisomy 13 is best identified through conventional cytogenetic study of amniotic fluid, chorionic villi, or fetal blood. |
| www.emedicine.com /PED/topic1745.htm (2146 words) |
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