Suzumori K, Tanemura M, Oya N, Suzumori N, Kim K C, Ohashi H, Fukushima Y
Department of Obstetrics and Gynaecology, Nagoya City University Medical School, Japan.
Prenat Diagn. 1998 Jul;18(7):725-30.
Initial approaches to prenatal diagnosis from fetal karyotyping involved application of standard cytogenetic techniques. However, when fetal samples, such as chorionic villus cells or amniocytes are used, small chromosome rearrangements cannot be easily identified because they lack a distinct banding pattern. We report here two cases with minute chromosome rearrangements detected prenatally by fluorescence in situ hybridization. The use of this technique allowed precise identification of fetal chromosome abnormalities, demonstrating its usefulness for characterizing conditions that would be difficult to diagnose correctly with conventional banding methods alone.
最初，胎儿核型分析的产前诊断方法涉及标准细胞遗传学技术的应用。然而，当使用胎儿样本，如绒毛膜绒毛细胞或羊水细胞时，小的染色体重排不易被识别，因为它们缺乏明显的带型模式。我们在此报告两例通过荧光原位杂交产前检测到微小染色体重排的病例。这项技术的使用使得能够精确识别胎儿染色体异常，证明了其在表征仅用传统带型方法难以正确诊断的病症方面的有用性。
