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Article

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

American journal of medical genetics. Part A - 1 Sept 2011

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 21815246
DOI: 10.1002/ajmg.a.33908

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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