title: Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
abstract: DNA and FISH (fluorescence in situ hybridization) analysis were carried out in 12 patients with stigmata of Turner syndrome to determine whether the Supernumerary Marker Chromosome (SMC) found cytogenetically in each of these patients was derived from the Y chromosome. The presence of a Y chromosome in these patients may predispose them to develop gonadoblastoma. PCR-Southern blot analysis, followed by FISH, was used to detect the presence of Y chromosome material. The Sex determining Region Y (SRY), Testis Specific Protein Y-encoded (TSPY) and Y-chromosome RNA Recognition Motif (YRRM) genes, which map at Yp11.31, Yp11.1-11.2 and Yp11.2/Yq11.21-11.23, respectively, were selected as markers, because they span the whole Y chromosome, and more importantly, they are considered to be involved in the development of gonadoblastoma. It was shown that in 12 patients, all of whom had an SMC, the SMC of 11 was derived from the Y chromosome. Furthermore, the presence of the SRY, TSPY and YRRM gene sequences was determined and FISH analysis confirmed the Y origin of the SMCs. The methodology described in this report is a rapid, reliable and sensitive approach which may be easily applied to determine the Y origin of an SMC carried in Turner syndrome. The identification of an SMC is important for the clinical management and prognostic counseling of these patients with Turner syndrome.
authors.affiliation: Department of Cytogenetics, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. patsalis@mdrtc.cing.ac.cy
authors.forename: P C
authors.initials: PC
authors.lastname: Patsalis
authors.forename: M I
authors.initials: MI
authors.lastname: Hadjimarcou
authors.forename: V
authors.initials: V
authors.lastname: Velissariou
authors.forename: S
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: C
authors.initials: C
authors.lastname: Zera
authors.forename: M
authors.initials: M
authors.lastname: Syrrou
authors.forename: E
authors.initials: E
authors.lastname: Lyberatou
authors.forename: A
authors.initials: A
authors.lastname: Tsezou
authors.forename: A
authors.initials: A
authors.lastname: Galla
authors.forename: N
authors.initials: N
authors.lastname: Skordis
mesh_terms: D018797:Cell Cycle Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome
chemical_list: D018797:Cell Cycle Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins; D005819:Genetic Markers; D009687:Nuclear Proteins; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; C497749:TSPY1 protein, human; D014157:Transcription Factors