Partial monosomy of chromosome 10 short arms

Abstract

Two children with monosomy 10p13 are reported. In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the second case was a de novo mutation. We reviewed clinical details of cases reported so far and found that certain symptoms are typical of the deletion of a comparatively large segment of chromosome 10 short arms. These symptoms include mental and growth retardation, skull abnormalities, antimongoloid slant of the eyes, ear abnormalities, anteverted nostrils, abnormalities of the hands and feet, cryptorchidism in boys, and, primarily, hypoplasia or aplasia of the olfactory bulbs and olfactory tracts as well as narrow palpebral fissures or eyelid ptosis.