Case Reports
doi: 10.1002/ajmg.1320370115.
De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome
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- PMID: 2240045
- DOI: 10.1002/ajmg.1320370115
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Case Reports
De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome
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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