| Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval. | |
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MedLine Citation:
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PMID: 21815246 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. © 2011 Wiley-Liss, Inc. |
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Authors:
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Kenjiro Kosaki; Hideyuki Saito; Rika Kosaki; Chiharu Torii; Kazuo Kishi; Takao Takahashi |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-3 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-8-4 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@z3.keio.jp. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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