因22号染色体末端缺失导致的伴有戈尔登哈综合征的多重先天性异常/智力障碍（MCA/MR）综合征
Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
作者信息
Herman G E, Greenberg F, Ledbetter D H
机构信息
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
出版信息
Am J Med Genet. 1988 Apr;29(4):909-15. doi: 10.1002/ajmg.1320290423.
PMID:3400736
Abstract
We present a case of terminal del(22q) with Goldenhar complex including hemifacial microsomia, bilateral epibulbar dermoids, preauricular tags with sensorineural hearing loss, vertebral anomalies, and CNS and renal malformations. The case illustrates causal heterogeneity of the Goldenhar complex and a previously unreported associated chromosome deletion.
摘要
我们报告一例患有Goldenhar综合征的22号染色体末端缺失病例，该综合征包括半侧颜面短小畸形、双侧眼球结膜皮样囊肿、伴有感音神经性听力损失的耳前赘生物、椎体异常以及中枢神经系统和肾脏畸形。该病例说明了Goldenhar综合征的病因异质性以及一种先前未报道的相关染色体缺失。
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