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A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies
Author(s) -
Jensen Daniel R.,
Martin Donna M.,
Gebarski Stephen,
Sahoo Trilochan,
Brundage Ellen K.,
Chinault A. Craig,
Otto Edgar A.,
Chaki Moumita,
Hildebrandt Friedhelm,
Cheung Sau Wai,
Lesperance Marci M.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32691
Subject(s) - hypoplasia , cerebellar hypoplasia (non human) , biology , pathology , anatomy , corpus callosum , fluorescence in situ hybridization , chromosome , genetics , medicine , gene , cerebellum , neuroscience
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. © 2009 Wiley‐Liss, Inc.