Infertility and Multiple Urogenital Abnormalities in a Male with Mosaic 46,XY/45,XO/47,XXY Karyotype and Mixed Phenotype

We hereby present a rare case of a 46,XY/45,XO/47,XXY mosaic male patient with a predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO gonadal dysgenesis and Klinefelter syndromes, suffered from infertility and multiple urogenital abnormalities, as our investiga...

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Veröffentlicht in:	Urologia internationalis 1998-01, Vol.61 (2), p.111-114
Hauptverfasser:	Filiadis, Ioannis F., Syrrou, Maria B., Bai, Maria C., Georgiou, Ioannis A., Pagoulatos, Gerasimos N., Giannakopoulos, Xenophon
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Biological and medical sciences Case Report Cell Line Chromosome aberrations Follow-Up Studies Gonadal Dysgenesis, 46,XY - diagnostic imaging Gonadal Dysgenesis, 46,XY - genetics Gonadal Dysgenesis, 46,XY - pathology Humans In Situ Hybridization, Fluorescence Infertility, Male - diagnostic imaging Infertility, Male - genetics Infertility, Male - pathology Karyotyping Klinefelter Syndrome - diagnostic imaging Klinefelter Syndrome - genetics Klinefelter Syndrome - pathology Male Medical genetics Medical sciences Middle Aged Mosaicism - genetics Noonan Syndrome - diagnostic imaging Noonan Syndrome - genetics Noonan Syndrome - pathology Phenotype Sex Chromosome Aberrations - genetics Sex Chromosomes Urinary Calculi - diagnosis Urinary Calculi - therapy Urogenital Abnormalities - diagnostic imaging Urogenital Abnormalities - genetics Urogenital Abnormalities - pathology Urography
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Zusammenfassung:	We hereby present a rare case of a 46,XY/45,XO/47,XXY mosaic male patient with a predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO gonadal dysgenesis and Klinefelter syndromes, suffered from infertility and multiple urogenital abnormalities, as our investigation revealed.
ISSN:	0042-1138 1423-0399
DOI:	10.1159/000030299