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47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat

Remarks on the problem of trisomy 22

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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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  1. Abteilung für Humangenetik der Medizinischen Hochschule Lübeck, Ratzeburger Allee 160, D-2400, Lübeck, Germany

    E. Kessel & R. A. Pfeiffer

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  1. E. Kessel
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  2. R. A. Pfeiffer
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Kessel, E., Pfeiffer, R.A. 47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Hum Genet 37, 111–116 (1977). https://doi.org/10.1007/BF00293781

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  • DOI: https://doi.org/10.1007/BF00293781

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