TY - JOUR
T1 - A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies
AU - Jensen, Daniel R.
AU - Martin, Donna M.
AU - Gebarski, Stephen
AU - Sahoo, Trilochan
AU - Brundage, Ellen K.
AU - Chinault, A. Craig
AU - Otto, Edgar A.
AU - Chaki, Moumita
AU - Hildebrandt, Friedhelm
AU - Cheung, Sau Wai
AU - Lesperance, Marci M.
PY - 2009/3
Y1 - 2009/3
N2 - 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.
AB - 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.
KW - 19p13
KW - Chromosomal microarray analysis
KW - Craniofacial
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U2 - 10.1002/ajmg.a.32691
DO - 10.1002/ajmg.a.32691
M3 - Article
C2 - 19215039
AN - SCOPUS:61749094155
SN - 1552-4825
VL - 149
SP - 396
EP - 402
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -