An SRY-deleted XXY female resulting from a paternally inherited t(Y;22)

Abstract

We report a case of a female with SRY-negative XXYp-. The karyotype by the conventional method revealed chromosome 22 with a short arm enlargement. The enlarged short arm contained a heterochromatic region, which was found by the whole chromosome painting method to be a part of the Y chromosome without the P arm. Chromosome study of the parents revealed that the t(Y;22) chromosome was derived from the patient's father who was phenotypically normal. Although the Y fragment was transmitted in patrilinear fashion in this case, our patient with intact copies of both X chromosomes and the Y chromosome with a deleted p arm is expected to show normal fertility. However, the patient should be closely followed in regard to fertility and the possibility of developing a gonadoblastoma.