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7号染色体三体嵌合体与伴有单侧桡骨发育不全的Goldenhar综合征表现

Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.

作者信息

Hodes M E, Gleiser S, DeRosa G P, Yune H Y, Girod D A, Weaver D D, Palmer C G

出版信息

J Craniofac Genet Dev Biol. 1981;1(1):49-55.

PMID:7341641
Abstract

We describe a girl born to a mother who took birth control pills and antihistamines during the first trimester of pregnancy. Congenital abnormalities included plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. The karyotype obtained from peripheral lymphocytes and from fibroblasts from the left side of the body was 46XX whereas fibroblasts from the right side revealed 46XX/47XX+7 mosaicism.

摘要

我们描述了一名女孩,其母亲在孕期头三个月服用了避孕药和抗组胺药。先天性异常包括斜头畸形、左耳异常、面部不对称、头发生长模式异常、唇腭裂、双叉舌、左侧斜颈、半椎体、左侧桡骨发育不全及拇指缺如、左侧腹股沟疝、动脉导管未闭、胸主动脉狭窄以及右肺动脉发育不全。从外周淋巴细胞和身体左侧成纤维细胞获得的核型为46XX,而右侧成纤维细胞显示为46XX/47XX+7嵌合体。

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Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia.7号染色体三体嵌合体与伴有单侧桡骨发育不全的Goldenhar综合征表现
J Craniofac Genet Dev Biol. 1981;1(1):49-55.
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Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome.9号染色体三体嵌合体:Goldenhar综合征临床表现的另一种病因。
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A patient with median cleft face anomaly and bilateral Goldenhar anomaly.一名患有正中面裂畸形和双侧眼耳脊椎综合征的患者。
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