Abstract |
True hermaphroditism is a very rare disorder of human sexual differentiation. In the medical literature, more than 450 cases are described, and about 250 true hermaphrodites have been subjected to chromosome studies. A 21-year-old "man" was examined because of genital and phenotypic abnormalities: clinical, surgical and laboratory investigations showed a true hermaphroditism, with a quadruple mosaicism 45,X/46,XX/46,XY/47,XXY. We believe that this is the first case in which this peculiar type of multiple mosaicism has been documented.
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Authors | A Borghi, L Papi, U Bigozzi, M Biagioni, G L Taddei, A Natali, M Maiello |
Journal | Genetic counseling (Geneva, Switzerland)
(Genet Couns)
Vol. 1
Issue 1
Pg. 81-8
( 1990)
ISSN: 1015-8146 [Print] Switzerland |
PMID | 2222927
(Publication Type: Journal Article)
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Topics |
- Disorders of Sex Development
(genetics)
- Female
- Genitalia
(abnormalities)
- Humans
- Karyotyping
- Male
- Mosaicism
- Ovary
(pathology)
- Testis
(pathology)
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