Is gestation in Prader-Willi syndrome affected by the genetic subtype?
Is gestation in Prader-Willi syndrome affected by the genetic subtype?
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DOI：
10.1007/s10815-009-9341-7
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发表时间：
2009-08-01
影响因子：
3.1
通讯作者：
Driscoll, Daniel J.
中科院分区：
文献类型：
--
作者：
Butler, Merlin G.;Sturich, Jennifer;Driscoll, Daniel J.
Background Prader-Willi syndrome (PWS) is a complex genetic disorder with errors in genomic imprinting, generally due to a paternal deletion of chromosome 15q11-q13 region. Maternal disomy 15 (both 15s from the mother) is the second most common form of PWS resulting from a trisomic zygote followed by trisomy rescue in early pregnancy and loss of the paternal chromosome 15. However, trisomy 15 or mosaicism for trisomy 15 may be present in the placenta possibly leading to placental abnormalities affecting gestational age and delivery.Methods and Subjects We examined growth and gestational data from 167 PWS infants (93 males and 74 females; 105 infants with 15q11-q13 deletion and 62 infants with maternal disomy 15) to determine if there are differences in gestation between the two genetic subtypes.Results No significant differences in growth data (birth weight, length, head circumference) or average gestational ages were found between the two genetic subgroups. However, post-term deliveries (>42 weeks gestation) were more common in the maternal disomy group (i.e., 12 of 62 infants) compared with the deletion group (i.e., 7 of 105 infants) (chi-square test=6.22; p
