Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval
Copyright policy )Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval
AbstractWe 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.
Developmental Disabilities, Constriction, Pathologic, Branchial Region, Phenotype, Japan, Humans, Abnormalities, Multiple, Female, Chromosome Deletion, Ear, External, Child, Chromosomes, Human, Pair 19
Developmental Disabilities, Constriction, Pathologic, Branchial Region, Phenotype, Japan, Humans, Abnormalities, Multiple, Female, Chromosome Deletion, Ear, External, Child, Chromosomes, Human, Pair 19
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