Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits
Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits
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DOI：
10.1002/ajmg.a.32205
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发表时间：
2008-05-01
影响因子：
2
通讯作者：
Matsuoka, Rumiko
中科院分区：
文献类型：
--
作者：
Paez, Marco T.;Yamamoto, Toshiyuki;Matsuoka, Rumiko
染色体8p23缺失综合征被认为是一种畸形综合征，临床症状包括面部异常、小头畸形、智力低下和先天性心脏缺陷。该综合征中导致心脏缺陷的基因已被确定为 8p23.1 上的 GATA4。对两名 8p23.1 间质缺失的患者进行了研究；一名患者表现出中度发育迟缓和 Ebstein 异常，另一名患者表现出轻度发育迟缓和典型的房室间隔缺损。使用 BAC 克隆作为探针，通过 FISH 分析确定精确的缺失大小 17 和 2.9 Mb。后者的缺失是之前报道的患者中包括GATA4在内的最小缺失，并对8p23缺失综合征临床表现（包括面部异常、小头畸形、行为异常和发育迟缓）的关键区域和基因进行了讨论。 (C) 2008 Wiley-Liss, Inc.
Chromosomal 8p23 deletion syndrome is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. The responsible gene for the heart defects in this syndrome has been identified as GATA4 on 8p23.1. Two patients with interstitial deletions of 8p23.1 were investigated; one patient showed moderate developmental delay and Ebstein anomaly, and the other showed mild delay and typical atrioventricular septum defect. The precise deletion sizes, 17 and 2.9 Mb, were determined by FISH analyses using BAC clones as probes. The latter deletion was the smallest deletion including GATA4 in the previously reported patients, and the critical regions and genes for clinical manifestation of 8p23 deletion syndrome, including facial anomalies, microcephaly, behavioral abnormality, and developmental delay, were discussed. (C) 2008 Wiley-Liss, Inc.