title: Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989.
abstract: In this report, we present the cytogenetic findings in 478 patients with Turner syndrome diagnosed in Leuven in the period 1965-1989. The karyotypic anomalies are classified into seven groups: 1) classic, 45,X karyotype (52.1%); 2) mosaic 45,X/46,XX (10.9%); 3) mosaic 45,X/47,XXX and other "super-female" cell lines (4.6%); 4) isochromosomes i(Xq) and i(Xp) (16.1%); 5) ring chromosomes r(X) (4.4%); 6) other structural aberrations of the X chromosome (7.7%); and finally 7) mosaic 45,X/46,XY patients (4%). The most pertinent chromosomal findings are briefly discussed and compared with previous reported surveys on subject.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Kleczkowska
authors.forename: E
authors.initials: E
authors.lastname: Dmoch
authors.forename: E
authors.initials: E
authors.lastname: Kubien
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D001530:Belgium; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000235:genetics; D014424:Turner Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics*