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Article

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

12 Feb 2009

Abstract excerpt

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...

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PMID: 19215039
DOI: 10.1002/ajmg.a.32691

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