Two cases of Y; autosome translocations: A 45,X male and a clinically trisomy 18 patient

Am J Med Genet. 1994 Feb 15;49(4):388-92. doi: 10.1002/ajmg.1320490407.

Abstract

We report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cells, Cultured
  • Child
  • Chromosome Banding
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 18*
  • DNA Primers
  • Humans
  • In Situ Hybridization
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Molecular Sequence Data
  • Translocation, Genetic*
  • Trisomy*
  • Y Chromosome*

Substances

  • DNA Primers