title: Branchial arch defects and 19p13.12 microdeletion: defining the critical region into a 0.8 M base interval.
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.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@z3.keio.jp
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Saito
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Kazuo
authors.initials: K
authors.lastname: Kishi
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001934:Branchial Region / Q000002:abnormalities*; D002648:Child; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D003251:Constriction, Pathologic; D002658:Developmental Disabilities / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006801:Humans; D007564:Japan; D010641:Phenotype