Literature DB >> 12558114

Partial trisomy 20q in a newborn with dextrocardia.

M C Addor1, C Castagne, J L Micheli, D F Schorderet.   

Abstract

A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare chromosomal anomaly are reviewed.

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Year:  2002        PMID: 12558114

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

1.  Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.

Authors:  Annemieke J M H Verkerk; Rachel Schot; Laura van Waterschoot; Hannie Douben; Pino J Poddighe; Maarten H Lequin; Linda S de Vries; Paulien Terhal; Johanne M D Hahnemann; Irenaeus F M de Coo; Marie-Claire Y de Wit; Leontien S Wafelman; Livia Garavelli; William B Dobyns; Peter J Van der Spek; Annelies de Klein; Grazia M S Mancini
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

  1 in total

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