Kleczkowska A, Dmoch E, Kubien E, Fryns J P, Van den Berghe H
Centre for Human Genetics, University of Leuven, Belgium.
Genet Couns. 1990;1(3-4):227-33.
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.
在本报告中，我们呈现了1965年至1989年期间在鲁汶诊断出的478例特纳综合征患者的细胞遗传学研究结果。核型异常分为七组：1）经典型，45,X核型（52.1%）；2）嵌合型45,X/46,XX（10.9%）；3）嵌合型45,X/47,XXX及其他“超雌”细胞系（4.6%）；4）等臂染色体i(Xq)和i(Xp)（16.1%）；5）环状染色体r(X)（4.4%）；6）X染色体的其他结构畸变（7.7%）；最后7）嵌合型45,X/46,XY患者（4%）。我们简要讨论了最相关的染色体研究结果，并与之前关于该主题的报道调查进行了比较。
