Literature DB >> 2729356

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

F M Mohammed1, T I Farag, S S Gunawardana, D D al-Digashim, S A al-Awadi, S A al-Othman, T S Sundareshan.   

Abstract

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.

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Year:  1989        PMID： 2729356     DOI： 10.1002/ajmg.1320320316

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

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4.  Cloning and characterization of wnt4a gene and evidence for positive selection in half-smooth tongue sole (Cynoglossus semilaevis).

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5.  Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.

Authors:  Gregory J Fitzgibbon; Jill Clayton-Smith; Siddharth Banka; Susan J Hamilton; Margaret M Needham; Jonathan K Dore; Jake T Miller; Gareth D Pawson; Lorraine Gaunt
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  5 in total

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