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 Citations (Scopus)

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
StatePublished - Oct 1997

Fingerprint

Turner Syndrome
X Chromosome
Nuclear Family
Mothers
Chromosome Deletion
Genetic Association Studies
Fluorescence In Situ Hybridization
Karyotype

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Zinn, A. R., Ouyang, B., Ross, J. L., Varma, S., Bourgeois, M., & Tonk, V. (1997). Del(X)(p21.2) in a mother and two daughters with variable ovarian function. Clinical Genetics, 52(4), 235-239.

Del(X)(p21.2) in a mother and two daughters with variable ovarian function. / Zinn, Andrew R.; Ouyang, Bing; Ross, Judith L.; Varma, Surendra; Bourgeois, Michael; Tonk, Vijay.

In: Clinical Genetics, Vol. 52, No. 4, 10.1997, p. 235-239.

Research output: Contribution to journalArticle

Zinn, AR, Ouyang, B, Ross, JL, Varma, S, Bourgeois, M & Tonk, V 1997, 'Del(X)(p21.2) in a mother and two daughters with variable ovarian function', Clinical Genetics, vol. 52, no. 4, pp. 235-239.
Zinn AR, Ouyang B, Ross JL, Varma S, Bourgeois M, Tonk V. Del(X)(p21.2) in a mother and two daughters with variable ovarian function. Clinical Genetics. 1997 Oct;52(4):235-239.
Zinn, Andrew R. ; Ouyang, Bing ; Ross, Judith L. ; Varma, Surendra ; Bourgeois, Michael ; Tonk, Vijay. / Del(X)(p21.2) in a mother and two daughters with variable ovarian function. In: Clinical Genetics. 1997 ; Vol. 52, No. 4. pp. 235-239.
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