A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter))

Hum Genet. 1977 Aug 31;38(1):39-48. doi: 10.1007/BF00295806.

Abstract

A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Chromosomes, Human, 21-22 and Y
  • Female
  • Growth Disorders / genetics
  • Humans
  • Karyotyping
  • Lymphocytes
  • Mosaicism*
  • Sex Chromosomes*
  • X Chromosome*