title: 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.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
authors.forename: K E
authors.initials: KE
authors.lastname: Atkins
authors.forename: A
authors.initials: A
authors.lastname: Gregg
authors.forename: A S
authors.initials: AS
authors.lastname: Spikes
authors.forename: C A
authors.initials: CA
authors.lastname: Bacino
authors.forename: B A
authors.initials: BA
authors.lastname: Bejjani
authors.forename: J
authors.initials: J
authors.lastname: Kirkland
authors.forename: L G
authors.initials: LG
authors.lastname: Shaffer
mesh_terms: D000293:Adolescent; D002648:Child; D002843:Chromatin; D005260:Female; D005820:Genetic Testing; D018238:Gonadoblastoma / Q000235:genetics; D006066:Gonads / Q000737:chemistry*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics*; D009634:Noonan Syndrome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D002843:Chromatin