Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)]

Clin Genet. 1976 Jun;9(6):621-4.

Abstract

A mentally retarded and malformed girl is described. Her karyotype was 45,XX,tdic (7;15) (p21;p11), i.e. she was monosomic for bands 7p22 and a part of 7p21. Only one of the two centromeres of the dicentric chromosome appeared to be functioning. The C-band positive material was retained by both centromeres (or adjacent to them). However, the Cd-band positive structure was absent in the presumably nonfunctioning centromere region.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Aneuploidy*
  • Chromosomes, Human, 13-15
  • Chromosomes, Human, 21-22 and Y
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Sex Chromosomes