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一名孕18周、患有口面裂、丹迪-沃克畸形和双侧多囊肾的胎儿，其6号染色体短臂24.1区至末端存在12兆碱基的缺失。

A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys.

作者信息

Chen Chih-Ping, Tzen Chin-Yuan, Chern Schu-Rern, Tsai Fuu-Jen, Hsu Chin-Yuan, Lee Chen-Chi, Lee Meng-Shan, Pan Chen-Wen, Wang Wayseen

出版信息

Eur J Med Genet. 2009 Jan-Feb;52(1):59-61. doi: 10.1016/j.ejmg.2008.11.003. Epub 2008 Nov 19.

DOI:10.1016/j.ejmg.2008.11.003
PMID:19049908
Abstract

We report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Characteristic craniofacial features include a turricephalic prominent forehead, hypertelorism, low-set ears, a flat nasal bridge, mid-face hypoplasia, bilateral cleft lip and palate, and a thick nuchal fold. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12Mb deletion of 6p24.1-->pter.

摘要

我们报告了一例孕18周的胎儿，其存在羊水过少、口面部裂、双侧多囊肾以及Dandy-Walker畸形。特征性的颅面部表现包括尖头畸形、前额突出、眼距过宽、低位耳、鼻梁扁平、面中部发育不全、双侧唇腭裂以及颈部厚褶。阵列比较基因组杂交（CGH）分析显示6p24.1至pter区域存在12Mb的缺失。

相似文献

1
A 12 Mb deletion of 6p24.1-->pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys.一名孕18周、患有口面裂、丹迪-沃克畸形和双侧多囊肾的胎儿，其6号染色体短臂24.1区至末端存在12兆碱基的缺失。
Eur J Med Genet. 2009 Jan-Feb;52(1):59-61. doi: 10.1016/j.ejmg.2008.11.003. Epub 2008 Nov 19.
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Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.完全性 9 号染色体三体伴有不常见的表型关联：Dandy-Walker 畸形、唇腭裂、心血管异常。
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Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1-2 syndactyly, heterotopic olivary tissue and thymic hypoplasia.独特的胎儿异常组合：唇腭裂、多囊性发育不良肾、1-2指（趾）并指（趾）畸形、异位橄榄组织和胸腺发育不全。
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Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting.人类6号染色体p24区域参与口腔颌面部裂隙病因学的进一步证据。
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Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.人类6号染色体p24上口腔颌面部裂隙位点的证据及该区域的STS含量图谱。
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Use of array comparative genome hybridization in orofacial clefting.阵列比较基因组杂交技术在颌面裂中的应用。
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Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features.采用阵列比较基因组杂交技术检测到19q13.32区域一个新发的0.8Mb缺失，该缺失与智力发育迟缓、心脏畸形、唇腭裂、听力损失及多种畸形特征相关。
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