Bode H, Bühler E M, Wyler F, Hadzilselimovic F
Universitäts-Kinderspital, Basel.
Monatsschr Kinderheilkd. 1990 Nov;138(11):763-6.
In a sister and a brother with striking similarity of facial dysplasias, severe disturbance of expressive speech, and mild mental retardation a partial trisomy of the long arm of chromosome 4 was identified as cause of these anomalies. The partial trisomy 4q was due to a balanced translocation between the chromosomes 1 and 4 in the father of both children.
在一对面部发育异常极为相似、表达性言语严重障碍且有轻度智力迟钝的姐弟中，发现4号染色体长臂部分三体性是这些异常的病因。4q部分三体性是由于两个孩子的父亲1号和4号染色体之间的平衡易位所致。
