Del (X)(p21.2) in a mother and two daughters with variable ovarian function

Clin Genet. 1997 Oct;52(4):235-9. doi: 10.1111/j.1399-0004.1997.tb02554.x.

Abstract

We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daughter had ovarian failure. These observations have implications for the diagnosis of Ullrich-Turner syndrome and genotype/phenotype correlations of X chromosome deletions.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / physiopathology
  • Chromosome Deletion*
  • Chromosome Disorders
  • Disease Susceptibility
  • Dwarfism / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Menopause, Premature / genetics*
  • Mosaicism / genetics*
  • Otitis Media / etiology
  • Ovary / physiopathology*
  • Phenotype
  • Recurrence
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics*
  • X Chromosome / genetics
  • X Chromosome / ultrastructure*