[谢尔谢夫斯基-特纳综合征患者及生殖功能障碍已婚夫妇的分子遗传学检查价值]
[Value of molecular-genetic examination of patients with the Shereshevsky-Terner syndrome and married couples with disorders of reproductive function].
作者信息
Vygovs'ka T V, Buzhyiievs'ka T I, Vorsanova S H
出版信息
Tsitol Genet. 1992 Jul-Aug;26(4):55-8.
PMID:1440919
Abstract
The molecular-cytogenetic investigation gives a significant opportunity for diagnosis of gonosome mosaics. Due to the molecular-cytogenetic method additional chromosomes in karyotypes in 4 of 13 patients are determined. A significant spreading of mosaicism type 45, XO/46, X among women with early spontaneous abortions is revealed.
摘要
分子细胞遗传学研究为诊断性染色体嵌合体提供了重要契机。通过分子细胞遗传学方法，在13例患者中的4例核型中确定了额外的染色体。研究发现，45,XO/46,X型嵌合体在早期自然流产女性中显著存在。
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