47,XXY/48,XXY,+21 chromosomal mosaicism presenting as hypospadias with scrotal transposition.
The syndrome of 47,XXY/48,XXY,+21 chromosomal mosaicism, double aneuploidy, is extremely rare and characterized by combined manifestations of Klinefelter's and Down's syndromes. We report a case of XXY/XXY,+21 mosaicism presenting with hypospadias associated with scrotal transposition.
Yamaguchi
T
T
Department of Urology, Miyazaki Medical College, Japan.
Hamasuna
R
R
Hasui
Y
Y
Kitada
S
S
Osada
Y
Y
D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000150:complications* / Q000235:genetics; D025063:Chromosome Disorders; D006801:Humans; D007021:Hypospadias / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D007223:Infant; D008297:Male; D009030:Mosaicism; D010413:Penis / Q000601:surgery; D012611:Scrotum / Q000601:surgery