45X/46XX boy with hypospadias: case report.
A 21-month-old boy with penoscrotal hypospadias had chromosomal mosaicism of 45X/46XX karyotype, which was confirmed by examination of cultured peripheral lymphocytes and fibroblasts from the genital skin. The H-Y antigen from the peripheral blood was positive. This case represents an example of 45X/46XX mosaicism presenting as an almost normal male phenotype with a scrotal testis.
Maeda
O
O
Nakamura
M
M
Namiki
M
M
Okuyama
A
A
Sonoda
T
T
Akiyama
T
T
Kurita
T
T
Sakamoto
H
H
D002871:Chromosome Banding; D005347:Fibroblasts / Q000648:ultrastructure; D006182:H-Y Antigen / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*
D006182:H-Y Antigen