Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory.

Abstract

The presence of Y chromatin in individuals with Ullrich-Turner syndrome (UTS) confers a risk for gonadoblastoma. In mosaic cases, little is known about Y chromatin distribution in gonads. Fluorescence in situ hybridization (FISH) is a direct approach to assess the extent of Y chromatin mosaicism in gonads. Gonadal tissue from four patients with mosaic karyotypes were analyzed by routine cytogenetics and FISH with X and Y centromere probes. Y chromatin was present in gonads in varying percentages in these patients. The distribution of Y chromatin in gonads of UTS individuals did not completely correlate with that found in blood lymphocytes. The finding of Y chromatin in the blood samples from these patients prompted the development of a screening strategy in our cytogenetics laboratory to detect low-level Y chromatin mosaicism in patients with UTS.

• Authors: K E Atkins, A Gregg, A S Spikes, C A Bacino, B A Bejjani, J Kirkland, L G Shaffer
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 91 Issue 5 Pg. 377-82 (Apr 24 2000) ISSN: 0148-7299 [Print] United States
• PMID: 10767002 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2000 Wiley-Liss, Inc.

Chemical References

• Chromatin

Topics

• Adolescent
• Child
• Chromatin
• Female
• Genetic Testing
• Gonadoblastoma (genetics)
• Gonads (chemistry)
• Humans
• In Situ Hybridization, Fluorescence
• Karyotyping
• Mosaicism (genetics)
• Noonan Syndrome (genetics)
• Y Chromosome (genetics)