Bzdúch V, Lukácová M, Beránková M, Halásová E, Véghová E, Bircák J
Bratisl Lek Listy. 1989 Jun;90(6):450-3.
Karyotypic examinations were carried out in 10 children suffering from Williams-Beuren's syndrome. Chromosomal aberrations were established in two of the children. In one case the mosaic pattern of Klinefelter's syndrome was recorded, evidently presenting an instance of coincidence. In the other case deletion of the long arm of chromosome 6 (q22.2q23) was demonstrated, which according to the authors' hypothesis may represent an alternative localization of the phenotypic traits of Williams-Beuren's syndrome or of its assumed underlying defect, namely derangement of the regulation of calcium metabolism. The value of cytogenetic examination of children with Williams-Beuren's syndrome in elucidating the so far obscure pathogenesis of this disease is being emphasized.
对10名患有威廉姆斯-贝伦综合征的儿童进行了核型检查。在其中两名儿童中发现了染色体畸变。在一个病例中记录到克氏综合征的嵌合模式，显然这是一个巧合的例子。在另一个病例中，证实了6号染色体长臂（q22.2q23）的缺失，根据作者的假设，这可能代表了威廉姆斯-贝伦综合征表型特征或其假定的潜在缺陷（即钙代谢调节紊乱）的另一种定位。强调了对威廉姆斯-贝伦综合征儿童进行细胞遗传学检查在阐明该疾病迄今尚不清楚的发病机制方面的价值。
