47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 37 (1), 111-116
- https://doi.org/10.1007/bf00293781
Abstract
Report of a supernumerary extra chromosome der(11;22)(q23; q12) resulting from a balanced translocation in the mother. The propositus suffers from mental deficiency, deafness and extreme muscular weakness and exhibits cleft palate, a labial lymphangioma and an atrial septum defect. Since the features of partial trisomy 11q23 frequently associated with a translocation t(11q;22q) bear similarities with the cases of so called trisomy 22 one might conjecture that some of these observations are in fact products of translocations including partial 11q.This publication has 27 references indexed in Scilit:
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