Deletion of the long arm of chromosome 6: two new patients and literature review

Clinical Genetics
L J EversJ P Fryns

Abstract

Two children with a partial monosomy 6q are reported: a girl with an interstitial deletion [46,XX,del(6)(q16.2q23.1)], and a boy with a terminal deletion [46,XY,del(6)(q25.1)]. Both children presented with developmental delay, facial dysmorphism and a cardiac defect. The patients have been studied using G banding and cosmid probes specific for the long arm of chromosome 6. Clinical data are compared with patients reported in the literature.

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Citations

Jan 7, 2004·American Journal of Medical Genetics. Part a·Hui Z ZhangBarbara R Pober
May 26, 2006·European Journal of Human Genetics : EJHG·Luigi TitomanlioAlain Verloes
Jan 19, 2010·American Journal of Medical Genetics. Part a·Liesbeth BackxHilde Van Esch
Aug 15, 2006·American Journal of Medical Genetics. Part a·Pasquale StrianoFrancesca Faravelli
Jan 6, 2012·Neurogenetics·Jill A RosenfeldLisa G Shaffer
Nov 14, 2007·Journal of Applied Genetics·Jorge Duran-GonzalezIngrid P Davalos
Dec 6, 2005·American Journal of Medical Genetics. Part a·Veronica BertiniAngelo Valetto
Jul 12, 2011·American Journal of Medical Genetics. Part a·J C GerberK Hackmann
Jun 29, 2012·American Journal of Medical Genetics. Part a·Benedetta ToschiPaolo Simi
Jun 25, 2013·American Journal of Medical Genetics. Part a·Aglaia VignoliMaria Paola Canevini
Oct 30, 2014·European Journal of Human Genetics : EJHG·Laïla El KhattabiAndrée Delahaye
Jun 7, 2007·Clinical Dysmorphology·Monica M ZherebtsovSusan Sklower Brooks

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