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

This publication has 5 references indexed in Scilit:

Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformations
Clinical Genetics, 1976
Partial monosomy 13 as the result of a balanced translocation 3/13 pat
Human Genetics, 1975
De novo (11;13) translocation
Human Genetics, 1975
Partial monosomy 13 as the result of a balanced translocation 3/13 pat
Published by Springer Nature ,1975
Clinical and chromosomal studies of the 18q-syndrome
The Journal of Pediatrics, 1971

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