Y chromosome heterochromatin of differing lengths in two cell populations of the same individual

Yassmine Akkari, Helen Lawce, Stephen Kelson, Cheree Smith, Craig Davis, Luke Boyd, R. Ellen Magenis, Susan Olson

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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 languageEnglish (US)
Pages (from-to)304-306
Number of pages3
JournalPrenatal Diagnosis
Issue number4
StatePublished - Apr 1 2005


  • DYZ
  • Prenatal diagnosis
  • Y chromosome
  • Yqh

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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