一例与9号染色体三体局限胎盘嵌合体相关的母体9号染色体单亲二倍体病例。
A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9.
作者信息
Wilkinson T A, James R S, Crolla J A, Cockwell A E, Campbell P L, Temple I K
机构信息
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, U.K.
出版信息
Prenat Diagn. 1996 Apr;16(4):371-4. doi: 10.1002/(SICI)1097-0223(199604)16:4<371::AID-PD866>3.0.CO;2-S.
We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaicism in the placenta and maternal UPD(9) in the fetal tissues. This case demonstrates that the mechanism of trisomy correction may result in a fetus with UPD(9).
我们描述了首例胎儿9号染色体单亲二倍体（UPD）病例，该胎儿在绒毛膜绒毛样本中显示为9号染色体嵌合三体。终止妊娠后的核型分析和分子研究证实了胎盘的嵌合现象以及胎儿组织中的母体9号染色体单亲二倍体。该病例表明三体矫正机制可能导致胎儿出现9号染色体单亲二倍体。
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