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.
| Original language | English |
|---|---|
| Pages (from-to) | 295-299 |
| Number of pages | 5 |
| Journal | Annals of Clinical and Laboratory Science |
| Volume | 40 |
| Issue number | 3 |
| Publication status | Published - 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