Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 155A, Issue 9, Pages 2212-2214Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.33908
Keywords
chromosome 19; branchial arch; microdeletion
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Funding
- Ministry of Health, Labour, and Welfare of Japan
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We present a patient with preauricular tags, preauricular and branchial pits, stenosis of the external auditory canals, mild hearing loss, and mild developmental delay who had a de novo 19p13.12 submicroscopic deletion. The size of the deletion was 760-kb, extending from 15,300,338 to 16,064,271 (hg18; NCBI Build 36.1). Our finding supports the notion that 19p13.12 represents a unique microdeletion syndrome characterized by branchial arch defects and the concept of exclusion mapping indicates that the putative locus for the branchial arch development is included in the 0.8-Mb interval defined by the deletion in the presently reported patient. (C) 2011 Wiley-Liss, Inc.
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