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Case Reports
. 1990 Sep;37(1):62-4.
doi: 10.1002/ajmg.1320370115.

De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome

C Cuoco  1 , M P Bicocchi, D Granata, P Mezzano, G Serra
Affiliations
Case Reports

De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome

C Cuoco et al. Am J Med Genet. 1990 Sep.

Abstract

We describe a 3-month-old girl with Prader-Willi syndrome and a de novo unbalanced karyotype 45,XX,t(15;21)(q13;q22.3). This rearrangement, resulting in monosomy for the pericentromeric region of chromosome 15 and a virtual monosomy for the 21q distal band, had a paternal origin as demonstrated by Q and NOR staining.

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