title: Molecular detection of cryptic Y-chromosomal material in patients with             Turner syndrome.
abstract: A systematic search for a hidden Y-chromosome mosaicism, in Turner syndrome             (TS) patients is justified by the evaluation of the risk of development of germ             cell tumors. In this study, we analyzed cryptic Y-chromosome derivatives by polymerase             chain reaction (PCR) coupled with fluorescence in situ hybridization (FISH) using             Y-specific sequences in patients with TS, and validated this methodology. Unrelated             patients with TS (n=32) of Mexican mestizo ethnic origin were diagnosed using             cytogenetic analysis. Clinical assessment, endocrine evaluation, karyotyping,             FISH and PCR analysis of the Y-chromosomal loci were performed. We found that             9.4% (3 out of 32) patients with TS had Y-chromosome material. Two patients showed             Y-chromosome by conventional cytogenetics. One patient had no Y-chromosome by             initial karyotyping (45, X) but was positive by lymphocyte PCR DNA analysis of             the Y-sequence-specific sex-determining region Y (SRY) gene. Our results suggest             that the detection of the Y-chromosome material using sensitive methods, such             as PCR coupled with FISH, should be carried out in all patients with TS and should             not be limited to TS patients with cytogenetically identifiable Y-chromosome and/or             virilization.
authors: Department of Genetics, Biomedical Research Center of Northeast (CIBIN), Mexican Institute of Social Security (IMSS), Monterrey, Nuevo León, Mexico. elvacortes@cibinmty.net
authors: Elva I
authors: EI
authors: Cortés-Gutiérrez
authors: Rosalba
authors: R
authors: Herrera-Bartolo
authors: Martha I
authors: MI
authors: Dávila-Rodríguez
authors: Gerardo C
authors: GC
authors: Palacios-Saucedo
authors: Javier
authors: J
authors: Vargas-Villarreal
authors: Juana B
authors: JB
authors: Romero-Villarreal
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders; D041322:Chromosomes, Human, Y; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction / Q000379:methods*; D015203:Reproducibility of Results; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics*
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein