title: A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
abstract: We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1, SIX1, and SIX5, genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis of the excised cervical sinus tracts was revised on re-examination to heterotopic salivary gland tissue. Using high resolution chromosomal microarray analysis, we identified a novel 2.52 Mb deletion at 19p13.12, which was confirmed by fluorescent in situ hybridization and demonstrated to be a de novo mutation by testing of the parents. Overall, deletions of chromosome 19p13 are rare.
authors.affiliation: Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan 48109-5241, USA.
authors.forename: Daniel R
authors.initials: DR
authors.lastname: Jensen
authors.forename: Donna M
authors.initials: DM
authors.lastname: Martin
authors.forename: Stephen
authors.initials: S
authors.lastname: Gebarski
authors.forename: Trilochan
authors.initials: T
authors.lastname: Sahoo
authors.forename: Ellen K
authors.initials: EK
authors.lastname: Brundage
authors.forename: A Craig
authors.initials: AC
authors.lastname: Chinault
authors.forename: Edgar A
authors.initials: EA
authors.lastname: Otto
authors.forename: Moumita
authors.initials: M
authors.lastname: Chaki
authors.forename: Friedhelm
authors.initials: F
authors.lastname: Hildebrandt
authors.forename: Sau Wai
authors.initials: SW
authors.lastname: Cheung
authors.forename: Marci M
authors.initials: MM
authors.lastname: Lesperance
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D011859:Radiography; D017422:Sequence Analysis, DNA