Partial monosomy of chromosome 10 short arms.
- 1 April 1983
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 20 (2), 107-111
- https://doi.org/10.1136/jmg.20.2.107
Abstract
Two children with monosomy 10p13 are reported. In the 1st case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;p13) while the 2nd case was a de novo mutation. Clinical details of cases reported so far showed 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.This publication has 17 references indexed in Scilit:
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