一名患有多种先天性异常的贝都因男孩中1号染色体的直接重复，即dir dup(1)(p21.2----p32) 。
Direct duplication of chromosome 1, dir dup(1)(p21.2----p32) in a Bedouin boy with multiple congenital anomalies.
作者信息
Mohammed F M, Farag T I, Gunawardana S S, al-Digashim D D, al-Awadi S A, al-Othman S A, Sundareshan T S
机构信息
Kuwait Medical Genetics Centre, Maternity Hospital.
出版信息
Am J Med Genet. 1989 Mar;32(3):353-5. doi: 10.1002/ajmg.1320320316.
Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.
在此，我们描述了一名患有1p从头重复和多种先天性异常的贝都因男孩。他有小头畸形、内斜视、鼻孔前倾、耳部畸形、小颌畸形、末节指骨发育不全、第5指屈曲指、猿线、左腹股沟疝、隐睾症以及严重的出生后生长发育迟缓。我们将临床发现与先前关于涉及1p染色体重复的报道结果进行了比较。
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