XO/XY mosaicism in phenotypic males.
Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.
Department of Paediatrics, Auckland School of Medicine, New Zealand.
K
K
Walker
A J
AJ
Gunn
P D
PD
Gluckman
D000293:Adolescent; D000328:Adult; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D012737:Sex Factors; D014960:X Chromosome