Ring chromosome 9. 46,XY,r(9) in a male with ambiguous external genitalia.
Cytogenetic investigation of a 4-year-old boy with ambiguous external genitalia revealed a 46,XY,r(9)(p2q3) complement. The patient displayed some phenotypic characteristics common to other reported r(9) cases, in addition to ambiguous external genitalia.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007621:Karyotyping; D008297:Male