两名患有多种先天性畸形和智力发育迟缓的女孩存在9号染色体三体嵌合体。
Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.
作者信息
Stoll C, Chognot D, Halb A, Luckel J C
机构信息
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
出版信息
J Med Genet. 1993 May;30(5):433-5. doi: 10.1136/jmg.30.5.433.
Abstract
Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.
摘要
本文报告了两名9号染色体三体性嵌合体的女孩。临床发现包括生长发育和智力迟缓、面部畸形、骨化延迟、单条掌纹、其中一名女孩有胃食管反流，另一名患者有室间隔和房间隔缺损。将这些发现与先前报道的其他9号染色体三体性嵌合体病例进行了比较。
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