Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

Eva Morava; Robert Hermann; Márta Czakó; Gyula Soltész; György Kosztolányi

doi:10.1002/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C

Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

Eva Morava, Robert Hermann, Márta Czakó, Gyula Soltész, György Kosztolányi

Medical Genetics

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/ 46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y. derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). (C) 2000 Wiley-Liss, Inc.

Original language	English (US)
Pages (from-to)	99-101
Number of pages	3
Journal	American journal of medical genetics
Volume	91
Issue number	2
DOIs	https://doi.org/10.1002/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C
State	Published - 2000

Keywords

Isodicentric Y
Mosaic Ullrich-Turner syndrome
Virilization

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C

Cite this

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abstract = "We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/ 46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y. derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). (C) 2000 Wiley-Liss, Inc.",

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AU - Morava, Eva

AU - Hermann, Robert

AU - Czakó, Márta

AU - Soltész, Gyula

AU - Kosztolányi, György

PY - 2000

Y1 - 2000

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AB - We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/ 46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y. derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism). (C) 2000 Wiley-Liss, Inc.

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Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

Abstract

Keywords

ASJC Scopus subject areas

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