title: Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method.
abstract: A 45,X karyotype is one of the common chromosomal abnormalities characterized by short stature, lack of development of secondary sexual characteristics, webbed neck and cubitus valgus. This phenotype was described by Turner in 1938 and was called Turner syndrome (TS). About 40-60% of the patients with TS phenotype have a 45,X karyotype, the rest either have a structurally abnormal X or Y chromosome or mosaicism with a second cell line. Determination of Y chromosome derivatives in patients with a 45,X karyotype is important for the management of these patients due to increased risk of gonadoblastoma. Low level mosaicism of Y chromosome may be missed by cytogenetic methods. The aim of our study is to analyze cryptic Y chromosome derivatives using Y specific sequences in 40 Turkish patients with a pure 45,X karyotype. Fourteen different Y specific sequences along the Y chromosome were selected for the detection of cryptic Y chromosome material by PCR analysis. The present study demonstrated that 2 patients with a 45,X karyotype (5%) have Y specific sequences except sex related region Y (SRY). One of them had displayed enhanced virilisation whereas other showed no virilisation. In conclusion, it has been found by PCR analysis that 5% of patients with a 45,X karyotype have Y chromosome sequences in the absence of any marker chromosome by cytogenetic analysis. The data also suggest that the patients with a 45,X karyotype should be analyzed for the presence of Y chromosome derivatives by sensitive methods, such as PCR, in order to calculate the future risk of developing gonadoblastoma.
authors.affiliation: Department of Medical Biology, Center for Genetic Diagnosis, School of Medicine, Pamukkale University, Denizli, Turkey. nsemerci@pamukkale.edu.tr
authors.forename: C Nur
authors.initials: CN
authors.lastname: Semerci
authors.forename: N Lale
authors.initials: NL
authors.lastname: Satiroglu-Tufan
authors.forename: Serap
authors.initials: S
authors.lastname: Turan
authors.forename: Abdullah
authors.initials: A
authors.lastname: Bereket
authors.forename: Beyhan
authors.initials: B
authors.lastname: Tuysuz
authors.forename: Elif
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Hulya
authors.initials: H
authors.lastname: Kayserili
authors.forename: Birsen
authors.initials: B
authors.lastname: Karaman
authors.forename: Serap
authors.initials: S
authors.lastname: Semiz
authors.forename: Fusun
authors.initials: F
authors.lastname: Duzcan
authors.forename: Huseyin
authors.initials: H
authors.lastname: Bagci
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations; D014421:Turkey; D014424:Turner Syndrome / Q000235:genetics*
chemical_list: D017931:DNA Primers