Supernumerary chromosome marker (1) in a developmentally delayed child

Am J Med Genet. 1995 Jul 3;57(3):400-2. doi: 10.1002/ajmg.1320570307.

Abstract

A 15-month-old boy with mild developmental delay and several minor anomalies was found to be mosaic 46,XY/47,XY ,+mar(1). The marker r(1) was a small de novo ring identified by FISH with a painting type DNA probe.

Publication types

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

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Disorders*
  • Developmental Disabilities / genetics*
  • Genetic Markers*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male

Substances

  • Genetic Markers