Long arm deletion of chromosome no. 6 in a mentally retarded boy with multiple physical malformations

J Ment Defic Res. 1975 Jun;19(2):139-44.

Abstract

In a severe mentally retarded boy with multiple physical malformations cytogenetic analysis by the method of heat Giemsa staining confirmed the long arm deletion of chromosome No. 6--46, XY, del(6) (q2). Cytogenetic finding in parents were normal.

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Deletion*
  • Chromosomes, Human, 6-12 and X*
  • Dermatoglyphics
  • Heart Defects, Congenital / complications
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Parents
  • Urogenital Abnormalities