Lin C C, Lowry R B, Snyder F F
Hum Genet. 1983;65(2):134-8. doi: 10.1007/BF00286649.
An infant with an interstitial deletion of chromosome 16 is reported. He showed severe psychomotor retardation and multiple congenital anomalies (craniofacial dysmorphism, cleft palate, endocardial cushion defect, preaxial polydactyly of one hand, low total ridge count). Unbanded chromosome studies following amniocentesis failed to identify the deletion. This case is very similar to other cases in the literature which were reported first by Fryns et al. (1977).
本文报道了一名患有16号染色体间质性缺失的婴儿。他表现出严重的精神运动发育迟缓以及多种先天性异常（颅面畸形、腭裂、心内膜垫缺损、单手轴前多指畸形、总嵴纹数低）。羊膜穿刺术后进行的非显带染色体研究未能识别出该缺失。该病例与文献中Fryns等人（1977年）首次报道的其他病例非常相似。
