Mihçi Ercan, Ozcan Mualla, Berker-Karaüzüm Sibel, Keser Ibrahim, Taçoy Sükran, Hapsolat Senay, Lüleci Güven
Division of Clinical Genetics, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Turk J Pediatr. 2009 Sep-Oct;51(5):453-9.
Subtelomeric rearrangements are an important cause of both sporadic and familial idiopathic mental retardation (MR) and/or congenital malformation syndromes. We report on a cohort of 107 children with idiopathic MR and normal karyotype 450-550 band level by GTG banding screened for subtelomeric rearrangements by multiprobe fluorescence in situ hybridization (FISH). In these cases, five patients had de novo deletions (1p deletion was found in 2 cases; 3q deletion, 9p and 9q deletions were found in 1 case each) and four patients had unbalanced rearrangements [der(5)t(5;15)(pter;qter)pat in 2 patients who were siblings, rec(10)dup(10p)inv(10)(p13q26)mat in 1 patient and der(18)t(18;22)(qter;qter) de novo in 1 patient]. Our study confirms that the subtelomeric rearrangements are a significant cause of idiopathic MR with dysmorphic features.
亚端粒重排是散发性和家族性特发性智力障碍（MR）和/或先天性畸形综合征的重要病因。我们报告了一组107例特发性MR且核型正常（通过GTG显带在450 - 550条带水平）的儿童，通过多探针荧光原位杂交（FISH）筛查亚端粒重排。在这些病例中，5例患者有新发缺失（2例发现1p缺失；3q缺失、9p和9q缺失各发现1例），4例患者有不平衡重排[2例同胞患者为der(5)t(5;15)(pter;qter)pat，1例患者为rec(10)dup(10p)inv(10)(p13q26)mat，1例患者为新发der(18)t(18;22)(qter;qter)]。我们的研究证实亚端粒重排是伴有畸形特征的特发性MR的重要病因。
