Abstract
Objective: To present a prenatal diagnosis report on a case where G-banding analysis of fetal metaphase chromosomes snowed populations of cells with two different Y chromosomes; one with a short block of heterochromatin (Yqh-) and one with a longer block of heterochromatin (Yqh+). Methods: These two populations of the Y chromosome were studied using fluorescent quinacrine banding and fluorescent in situ hybridization (FISH). A chromosome paint corresponding to the euchromatic region of the Y chromosome, and probes corresponding to the SRY, DYZ1, and DYZ3 regions were used for this study. Results: Both Y chromosomes appeared to be structurally normal by these analyses. Subsequent ultrasound examination at 20 weeks' gestation revealed normal male genitalia. Follow-up with a neonatal blood sample analysis confirmed the above findings. Conclusions: This study reports a direct prenatal diagnosis case of two populations of the Y chromosome in the same individual. This apparent mosaicism may be explained by a postzygotic simple deletion or unequal crossover event between sister chromatids in the DYZ region.
Original language | English (US) |
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Pages (from-to) | 304-306 |
Number of pages | 3 |
Journal | Prenatal Diagnosis |
Volume | 25 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2005 |
Keywords
- DYZ
- Prenatal diagnosis
- Y chromosome
- Yqh
ASJC Scopus subject areas
- Obstetrics and Gynecology
- Genetics(clinical)