Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8M base interval

Kenjiro Kosaki, Hideyuki Saito, Rika Kosaki, Chiharu Torii, Kazuo Kishi, Takao Takahashi

研究成果: Article

7 引用 (Scopus)

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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.

元の言語English
ページ(範囲)2212-2214
ページ数3
ジャーナルAmerican Journal of Medical Genetics, Part A
155
発行部数9
DOI
出版物ステータスPublished - 2011 9 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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