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Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

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BioMed Central
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PMC
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  • Research Article

Abstract

1471-2350-5-17.fm ral ss BioMed CentBMC Medical Genetics Open AcceResearch article Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment Douglas B Gould*1, Mohamad S Jaafar2, Mark K Addison3, Francis Munier4, Robert Ritch5, Ian M MacDonald1 and Michael A Walter1 Address: 1Departments of Ophthalmology and Medical Genetics, University of Alberta, Edmonton, Alberta, Canada, 2Department of Ophthalmology, Children's National Medical Center, Washington, D.C., USA, 3Departments of Pediatrics and Internal Medicine, Cullman Regional Medical Center, Cullman, Alabama, USA, 4Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland and 5Department of Ophthalmology, The New York Eye and Ear Infirmary, New York, New York and New York Medical College, Valhalla, New York, USA Email: Douglas B Gould* - [email protected]; Mohamad S Jaafar - [email protected]; Mark K Addison - [email protected]; Francis Munier - [email protected]; Robert Ritch - [email protected]; Ian M MacDonald - [email protected]; Michael A Walter - [email protected] * Corresponding author Abstract Background: Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome patients include hydrocephalus, hearing loss, and ocular, craniofacial, skeletal, cardiac, and renal malformations. Molecular characterization of deletions can identify genes that are responsible for these phenotypes. Methods: We report the clinical phenotype of seven patients with terminal deletions of chromosome 6p25 and compare them to previously reported patients. Molecular characterization of the deletions was performed using polymorphic marker analysis to determine the extents of the deletions in these seven 6p25 deletion syndrome patients. Results: Our results, and previo

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