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| | eMedicine - Patau Syndrome : Article by Robert G Best, PhD, FACMG |
 | | 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. |
 | | Mosaicism for trisomy 13 is associated with a milder degree of severity, with the mildest expression typically in the lowest levels of mosaicism. |
 | | In general, for freestanding trisomy 13, the recurrence risk for trisomy 13 or another clinically viable trisomy (ie, trisomy 21, trisomy 18) is approximately 0.5% above the mother's age-related risk for autosomal trisomies. |
| www.emedicine.com /ped/topic1745.htm (2146 words) |
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