Schröchsnadel H, Feichtinger C, Scheminzky C
Humangenetik. 1975 Oct 7;29(4):329-35. doi: 10.1007/BF00394195.
A trisomy 4p14 leads to 4pter in a 15-year-old girl is reported. The main features are physical and mental retardation and the absence of gross malformations. The relevance of other symptoms found in the patient is discussed.
报道了一名15岁女孩因4号染色体短臂1区4带三体(4p14)导致4号染色体短臂末端缺失的病例。主要特征为智力和身体发育迟缓且无明显畸形。文中讨论了该患者出现的其他症状的相关性。