新发15q部分三体（近端型）。
De novo partial trisomy 15q (proximal type).
作者信息
Herweijer T J, Oorthuys J W, Leschot N J
机构信息
Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands.
出版信息
J Med Genet. 1988 Apr;25(4):260-2. doi: 10.1136/jmg.25.4.260.
Abstract
This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to have a de novo partial trisomy of the proximal part of the long arm of chromosome 15.
摘要
本报告描述了一名患有斜视、高拱腭、反蒙古样斜眼、低位耳、听力丧失、小颌、短颈和肛门前移的智力发育迟缓女孩。她被发现患有15号染色体长臂近端的新发部分三体性。
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