De novo (15;21) unbalanced translocation of paternal origin in a girl with Prader-Willi syndrome.
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.
Cuoco
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Laboratorio di Citogenetica, Istituto G. Gaslini, Università di Genova, Italy.
Bicocchi
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MP
Granata
D
D
Mezzano
P
P
Serra
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G
D002675:Child, Preschool; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014178:Translocation, Genetic