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

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)2212-2214
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number9
DOIs
Publication statusPublished - 2011 Sep

Fingerprint

Branchial Region
Ear Canal
Hearing Loss
Pathologic Constriction

Keywords

  • Branchial arch
  • Chromosome 19
  • Microdeletion

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Branchial arch defects and 19p13.12 microdeletion : Defining the critical region into a 0.8M base interval. / Kosaki, Kenjiro; Saito, Hideyuki; Kosaki, Rika; Torii, Chiharu; Kishi, Kazuo; Takahashi, Takao.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 9, 09.2011, p. 2212-2214.

Research output: Contribution to journalArticle

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