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Ann Clin Lab Sci. 2010 Summer;40(3):295-9.

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

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Department of Laboratory Medicine, Yonsei University College of Medicine, Kangnamgu, Seoul 146-92, Korea.


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.

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