Expression of two G-6-PD genes in an XX phenotypic male.
The glucose-6-phosphate dehydrogenase (G-6-PD) gene is located on the X-chromosome. Normal males have a single gene and produce a single G-6-PD type, while normal XX females may be heterozygotes for two different G-6-PD genes. We report the case of a phenotypic male who was found to be heterozygous for two G-6-PD enzymes. Cytogenetic analysis showed that he was a 46,XX male.
D002648:Child; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006450:Hemoglobin SC Disease / Q000201:enzymology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000201:enzymology / Q000235:genetics*; D014960:X Chromosome
D005954:Glucosephosphate Dehydrogenase