A Y/15 translocation in a 45,X male with Prader-Willi syndrome

Surasak Puvabanditsin, E. Garrow, S. Razi, A. G. Mohar, J. J. Tadros, N. Phattraprayoon, P. Patel

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

We report a male neonate with a 45 X karyotype; the long arm of a chromosome 15 was translocated onto the proximal long arm of the Y chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal 15q13 and Yq11.2. The derivative chromosome has no primary centromere. Clinical features were compatible with Prader-Willi syndrome. This is the first report case of monosomy 15q and Yq deletion with Prader-Willi syndrome.

Original languageEnglish (US)
Pages (from-to)417-421
Number of pages5
JournalGenetic Counseling
Volume18
Issue number4
StatePublished - 2007

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Keywords

  • Neonate
  • Partial monosomy 15q
  • Prader-Willi syndrome
  • Y/autosomal translocation
  • Yq deletion

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