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Direct duplication of chromosome 1, dir dup(1)(p21.2 → p32) in a Bedouin boy with multiple congenital anomalies

✍ Scribed by Mohammed, F. M. A. ;Farag, T. I. ;Gunawardana, S. S. ;Al-Digashim, D. D. ;Al-Awadi, S. A. ;Al-Othman, S. A. ;Sundareshan, T. S.

Publisher: John Wiley and Sons
Year: 1989
Tongue: English
Weight: 210 KB
Volume: 32
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320320316

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✦ Synopsis

Here we describe a Bedouin boy with a de novo duplication of l p 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 lp.

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