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

doi:10.1111/j.1399-0004.1997.tb02554.x

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 journal › Article › peer-review

25 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 language	English (US)
Pages (from-to)	235-239
Number of pages	5
Journal	Clinical Genetics
Volume	52
Issue number	4
DOIs	https://doi.org/10.1111/j.1399-0004.1997.tb02554.x
State	Published - 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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10.1111/j.1399-0004.1997.tb02554.x

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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.",

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AU - Zinn, Andrew R.

AU - Ouyang, Bing

AU - Ross, Judith L.

AU - Varma, Surendra

AU - Bourgeois, Michael

AU - Tonk, Vijay

PY - 1997/10

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AB - 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.

KW - Chromosome deletion

KW - Gonadal dysgenesis

KW - Monosomy

KW - Ovarian failure

KW - Premature

KW - Turner syndrome

KW - X chromosome

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

Abstract

Keywords

ASJC Scopus subject areas

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