A case of (13q;18q) translocation with proximal 13q monosomy
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 38 (3) , 337-341
- https://doi.org/10.1007/bf00402161
Abstract
A case of partial monosomy of the 13p terminal to 13q12, associated with a de novo 13/18 translocation, is reported. The symptoms appeared to be derived from both 18q- and partial monosomy 13, the latter giving rise to: high arched palate, epicanthus, antimongolian slant, small eye fissure, flat nasal bridge, hypoplastic helix, and large clitoris. Serum Ig-A and Ig-M levels were normal in our case.Keywords
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