title: Genetic analysis of mosaicism in 53 women with Turner syndrome.
abstract: Mosaicism involving the sex chromosomes is a common finding in women with Turner syndrome (TS). It is especially important to detect Y-chromosomal material, since this is a risk factor for the development of gonadoblastoma. Recent studies have also indicated that the frequency of 45,X cells may be used to predict prognosis. As part of an ongoing multi-disciplinary study, we have examined the extent of Y-chromosomal material and sex chromosomal mosaicism and its tissue specificity in 53 women with TS. The results of lymphocyte karyotyping were compared with the use of interphase X/Y fluorescence in situ hybridisation (FISH) analysis of lymphocytes and buccal mucosal cells. As could be expected, an extended FISH analysis detected more Y-chromosomal material than karyotyping (in 15% vs. 11% of the women, respectively) and also detected more X-chromosomal mosaicism among the TS women (in 70% vs. 45 % of the women, respectively). In half of the women, tissue-specific differences between lymphocytes and buccal mucosal cells were found. Based on these results, we suggest the use of X/Y interphase FISH as a complement to karyotyping in order to obtain a more complete knowledge of the chromosome constitution of each individual with TS.
authors.affiliation: Department of Obstetrics and Gynecology, Sahlgrenska University Hospital, Gothenburg, Sweden. lars.hanson@obgyn.gu.se
authors.forename: L
authors.initials: L
authors.lastname: Hanson
authors.forename: I
authors.initials: I
authors.lastname: Bryman
authors.forename: M L
authors.initials: ML
authors.lastname: Barrenäs
authors.forename: P O
authors.initials: PO
authors.lastname: Janson
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
authors.forename: K
authors.initials: K
authors.lastname: Albertsson-Wikland
authors.forename: C
authors.initials: C
authors.lastname: Hanson
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000782:Aneuploidy; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics*; D009061:Mouth Mucosa / Q000166:cytology*; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome / Q000235:genetics*