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Case Reports
. 1977 Jun 10;37(1):111-6.
doi: 10.1007/BF00293781.

47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22

E Kessel, R A Pfeiffer
Case Reports

47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22

E Kessel et al. Hum Genet. .

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.

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References

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