association of a de novo 16q copy number variant with a phenotype that overlaps with lenz microphthalmia and townes-brocks syndromes协会新创16问拷贝数变异和表型与楞次重叠的小眼和townes-brocks综合症.pdfVIP

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association of a de novo 16q copy number variant with a phenotype that overlaps with lenz microphthalmia and townes-brocks syndromes协会新创16问拷贝数变异和表型与楞次重叠的小眼和townes-brocks综合症.pdf

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association of a de novo 16q copy number variant with a phenotype that overlaps with lenz microphthalmia and townes-brocks syndromes协会新创16问拷贝数变异和表型与楞次重叠的小眼和townes-brocks综合症

BMC Medical Genetics BioMed Central Case report Open Access Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes 1 1 2 2 Tanya M Bardakjian , Adele S Schneider , David Ng , Jennifer J Johnston and Leslie G Biesecker*2 Address: 1Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA and 2National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA Email: Tanya M Bardakjian - BardakjianT@; Adele S Schneider - schneida@; David Ng - davidng@; Jennifer J Johnston - jjohnsto@; Leslie G Biesecker* - leslieb@ * Corresponding author Published: 16 December 2009 Received: 19 May 2009 Accepted: 16 December 2009 BMC Medical Genetics 2009, 10:137 doi:10.1186/1471-2350-10-137 This article is available from: /1471-2350/10/137 © 2009 Bardakjian et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Background: Anophthalmia and microphthalmia are etiologically and clinically heterogeneous. Lenz microphthalmia is a syndromic form that is typically inherited in an X-linked pattern, though the causative gene mutation is unknown. Townes-Brocks syndrome