A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1

Nacer Abbas, Giuseppe Novelli, Narcisio Carlo Stella, Onofrio Triolo, Francesco Corrado, Marc Fellous, Michèle Chery, Simone Gilgenkrantz, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

A 45,X complement was found in lymphocyte and fibroblast cultures of a male infant with severe growth and mental retardation and mild dysmorphism. Lymphocyte DNA from this patient was found to contain Yp chromosome sequences. In situ hybridization (ISH) with the 50f2 probe led to a clear assignment of euchromatic material on the short arm of chromosome 1. This observation and others from the literature argue in favour of the conclusion that all 45.X males are probably either the result of undetected mosaicism or are carriers of Y translocated material.

Original languageEnglish
Pages (from-to)94-98
Number of pages5
JournalHuman Genetics
Volume86
Issue number1
DOIs
Publication statusPublished - 1990

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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