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746 A DE NOVO Y/A TRANSLOCATION WITH XO MOSAICISM IN A VIETNAMESE INFANT

A two-day old Vietnamese infant with ambiguous genitalia was referred to us for cytogenetic evaluation. He was the 2680 gram product of a full term pregnancy to a 20 year old mother. There was no family history of usage of drugs or birth control pills, or congenital anomalies. Physical findings were normal except that the genitourinary examination revealed a 3 cm long phallus with bifid scrotum, hypospadias, bilateral palpable gonads, normal kidneys, and midline ovoid structure consistent with an infantile uterus. There was no physical evidence of a vagina. Blood chromosome analysis by G-banding revealed two cell populations: 48 percent with 45,XO and 52 percent with 46,X,t(Y;Y) (p11;q12). The abnormal chromosome resembled a C-group chromosome in conventionally stained cells since the Y chromosome in Oriental populations normally has a large amount of heterochromatin. The heterochromatic segment involved in the translocation was confirmed by Q- and C-banding. The father's karyotype was normal, and the centromeric index of his Y chromosome was used to confirm our findings. The predominance of testicular tissue is due to the presence of complete euchromatic segments of the Y chromosome while the ambiguity of the genitalia may have resulted from the XO mosaicism.