A novel chromosome 19p13. 12 deletion in a child with multiple congenital anomalies
DR Jensen, DM Martin, S Gebarski… - American Journal of …, 2009 - Wiley Online Library
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 …
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 …
A novel chromosome 19p13. 12 deletion in a child with multiple congenital anomalies How to cite this article: Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage …
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 …
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 …