Article
Infertility and multiple urogenital abnormalities in a male with mosaic 46,XY/45,XO/47,XXY karyotype and mixed phenotype.
Urologia internationalis - 1 Jan 1998
Filiadis I F, Syrrou M B, Bai M C, Georgiou I A, Pagoulatos G N, Giannakopoulos X
Abstract excerpt
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 invest...
Topics
- Abnormalities, Multiple
- Cell Line
- Follow-Up Studies
- Gonadal Dysgenesis, 46,XY
- Humans
- In Situ Hybridization, Fluorescence
- Infertility, Male
- Karyotyping
- Klinefelter Syndrome
- Male
- Middle Aged
- Mosaicism
- Noonan Syndrome
- Phenotype
- Sex Chromosome Aberrations
- Sex Chromosomes
- Urinary Calculi
- Urogenital Abnormalities