Insertional translocation into the X chromosome of a 46,XY male

Clin Genet. 1977 Aug;12(2):114-8. doi: 10.1111/j.1399-0004.1977.tb00912.x.

Abstract

A baby boy with multiple congenital anomalies and low birth weight has an apparent de novo insertional translocation into the long arm of his only X chromosome. The origin of the translocated material is not evident and both cytogenetic and X-linked marker studies do not indicate any loss of genetic material from the X chromosome. His findings are compared with other males who have X-translocations, none of which appear to be insertional translocations.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations*
  • Genes
  • Humans
  • Infant
  • Infant, Newborn
  • Sex Chromosomes*
  • Translocation, Genetic*