47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat |
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Authors: | E. Kessel R. A. Pfeiffer |
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Affiliation: | (1) Abteilung für Humangenetik der Medizinischen Hochschule Lübeck, Ratzeburger Allee 160, D-2400 Lübeck, Germany |
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Abstract: | Summary 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. |
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