Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia
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DOI：
10.1002/ajmg.a.30778
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发表时间：
2005-07-01
影响因子：
2
通讯作者：
Matsumoto, N
中科院分区：
文献类型：
--
作者：
Shimokawa, O;Miyake, N;Matsumoto, N
一名36周大的胎儿因左胸腔囊性肿块和积液被转介到医疗中心，并在妊娠37周时通过剖宫产来处理新生儿问题。紧急手术修复左膈疝，但严重缺氧持续，他于第二天死亡。羊水细胞的染色体分析显示46、XY、del(8)（p23.1）。这是第4例8p23.1缺失与膈疝相关的病例。利用培养的羊水细胞DNA进行微阵列比较基因组杂交分析，发现有6个克隆被删除，它们被定位在前面描述的8p23.1的两个低拷贝重复（lcr）之间的区域。微卫星分析显示该缺失为父系来源，其父母未携带8p23.1多态性反转。这些数据强烈提示，8p23.1间质缺失的发生机制可能与inv dup del（8p）不同，inv dup del（8p）的结构异常通常来自母体，并伴随着母体的杂合8p23.1多态性反转。(c) 2005 Wiley-Liss, Inc。
A 36-week-old fetus was referred to the medical center because of his cystic mass and fluid in left thoracic cavity, and was delivered by cesarean section to manage neonatal problems at 37 weeks of gestation. Emergent surgical repair of the left diaphragmatic hernia was performed, but severe hypoxia persisted, and he expired on the following day. Chromosome analysis of cultured amniotic fluid cells indicated 46,XY,del(8)(p23.1p23.1). This is the fourth case of 8p23.1 deletion associated with diaphragmatic hernia. Microarray comparative genomic hybridization analysis using DNA of cultured amniotic fluid cells showed that six clones were deleted, which were mapped to the region between two low copy repeats (LCRs) at 8p23.1 previously described. Microsatellite analysis revealed that the deletion was of paternal origin, and his parents did not carry 8p23.1 polymorphic inversion. These data strongly suggested that the 8p23.1 interstitial deletion should have arisen through a different mechanism from that of inv dup del(8p) whose structural abnormality is always of maternal origin and accompanies heterozygous 8p23.1 polymorphic inversion in mother. (c) 2005 Wiley-Liss, Inc.