title: Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and amenorrhoea.
abstract: In the present study, 73 cases with a clinical diagnosis of Turner syndrome, or with primary or secondary amenorrhoea without frank Turner phenotype, were evaluated for presence of low level Y chromosome mosaicism using molecular methods. Fluorescence in-situ hybridization for centromere and q arm of the Y chromosome and nested polymerase chain reaction for the sex determining region on Y (SRY) gene were performed in peripheral blood, buccal cells and gonadal biopsies. The overall frequency of Y chromosome mosaicism was found to be 18% (13/73 cases). Four cases (16%) of Turner syndrome had Y chromosome mosaicism, seven cases (28%) with primary amenorrhoea and two cases (9%) with secondary amenorrhoea had Y chromosome mosaicism. Histologically detectable gonadoblastoma was observed in one of seven cases (14%) that had Y chromosome mosaicism. This frequency is lower than that reported previously, underscoring the need for large prospective investigations to determine the frequency of Y chromosome mosaicism and occurrence of gonadoblastoma in cases of Turner syndrome and other forms of amenorrhoea.
authors.affiliation: Cell Biology Department, Research Society, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai, India. deepaknmodi@yahoo.com
authors.forename: Deepak
authors.initials: D
authors.lastname: Modi
authors.forename: Deepa
authors.initials: D
authors.lastname: Bhartiya
mesh_terms: D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D041322:Chromosomes, Human, Y; D020732:Cytogenetic Analysis; D005260:Female; D024282:Genes, sry; D018238:Gonadoblastoma / Q000150:complications / Q000175:diagnosis*; D006066:Gonads / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D009030:Mosaicism / Q000706:statistics & numerical data*; D016133:Polymerase Chain Reaction; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*