Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformations.
A 20-week gestational age fetus with full triploidy and multiple malformations is presented. In all examined lymphocytes, fibroblasts and chorionic villi, a 69,XXY karyotype was found. Autopsy examination revealed bilateral ovotestes but, no evidence of Müllerian derivatives.
Petit
P
P
Centre for Human Genetics, University of Leuven, Belgium.
Moerman
P
P
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D011123:Polyploidy; D012729:Sex Chromosome Aberrations / Q000473:pathology*