Familial 14-Mb deletion at 21q11.2–q21.3 and variable phenotypic expression

Abstract

AbstractWe report a familial case with a proximal interstitial deletion of chromosome 21q [del(21q)]. Although the mother in the family was phenotypically normal, her first child was affected with both sensorineural hearing loss and moderate mental retardation, and the second affected child had mild mental retardation but not sensorineural hearing loss. We… (More)
DOI: 10.1007/s100380200076

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