Institute of Psychiatry and Neurology, Department of Genetics, Warsaw, Poland.
J Appl Genet. 2010;51(2):215-7. doi: 10.1007/BF03195731.
Fluorescent in situ hybridization (FISH) was performed in 76 patients referred to our department because of intellectual disability and dysmorphic features that can be related to subtelomeric microaberrations. In all the patients, conventional cytogenetic methods revealed normal karyotype. Four (5.3%) subtelomeric rearrangements were detected by FISH: 2 subtelomeric 1p36 deletions, an unbalanced translocation involving chromosomes 1 and 12 with 1p36 deletion, and a de novo balanced translocation involving chromosomes 19 and 22. Thus, 3 cases of 1p36 subtelomeric deletion were found (3.95%). To confirm subtelomeric rearrangements in 2 patients, comparative genomic hybridization (CGH) was applied. Moreover, 3 cases of polymorphism without phenotypic effects were found: in 2 patients, the polymorphism involved the long arm of chromosome 2 (maternal derivative in both patients), while in the third patient, a polymorphism of the long arm of chromosome 7 was diagnosed. The latter polymorphism was also found in the patient's mother and grandfather.
荧光原位杂交（FISH）在 76 名因智力障碍和发育异常而转介到我们科室的患者中进行，这些异常可能与亚端粒微缺失有关。所有患者的常规细胞遗传学方法均显示正常核型。FISH 检测到 4 种（5.3%）亚端粒重排：2 种 1p36 亚端粒缺失、涉及 1 号和 12 号染色体的不平衡易位伴 1p36 缺失、以及新发生的涉及 19 号和 22 号染色体的平衡易位。因此，发现了 3 例 1p36 亚端粒缺失（3.95%）。为了在 2 名患者中确认亚端粒重排，应用了比较基因组杂交（CGH）。此外，还发现了 3 例无表型效应的多态性：在 2 名患者中，多态性涉及 2 号染色体的长臂（两名患者均为母体衍生），而在第 3 名患者中，诊断出 7 号染色体长臂的多态性。该多态性也在患者的母亲和祖父中发现。
