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

Juwon Kim, Sun Hee Kim, Jaewoo Song, Jong Rak Choi, Ho Seong Kim, Kyung A. Lee

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)295-299
Number of pages5
JournalAnnals of Clinical and Laboratory Science
Issue number3
Publication statusPublished - 2010 Jun

All Science Journal Classification (ASJC) codes

  • Microbiology
  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Immunology
  • Molecular Biology
  • Hematology
  • Clinical Biochemistry
  • Medical Laboratory Technology


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