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

Andrew R. Zinn, Bing Ouyang, Judith L. Ross, Surendra Varma, Michael Bourgeois, Vijay Tonk

Research output: Contribution to journalArticle

23 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)235-239
Number of pages5
JournalClinical Genetics
Volume52
Issue number4
DOIs
StatePublished - Oct 1997

Keywords

  • Chromosome deletion
  • Gonadal dysgenesis
  • Monosomy
  • Ovarian failure
  • Premature
  • Turner syndrome
  • X chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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