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

✍ Scribed by Atkins, Kay E.; Gregg, Anthony; Spikes, Aimee S.; Bacino, Carlos A.; Bejjani, Bassem A.; Kirkland, John; Shaffer, Lisa G.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 21 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000424)91:5<377::aid-ajmg11>3.0.co;2-8

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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