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

C. Cuoco, M. P. Bicocchi, D. Granata, P. Mezzano, G. Serra

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)62-64
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume37
Issue number1
DOIs
Publication statusPublished - 1990

Keywords

  • chromosome 15
  • unbalanced translocation

ASJC Scopus subject areas

  • Genetics(clinical)

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