Subtelomere deletions and translocations are frequently familial
Subtelomere deletions and translocations are frequently familial
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DOI：
10.1002/ajmg.a.30675
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发表时间：
2005-05-15
影响因子：
2
通讯作者：
Jalal, SM
中科院分区：
文献类型：
--
作者：
Adeyinka, A;Adams, SA;Jalal, SM
近年来，已开发出策略来研究染色体亚端粒区域在遗传性疾病中的可能作用。本研究旨在确定发育迟缓、特发性智力低下或非特异性先天性异常个体中家族性端粒下异常的发生率。对进行端粒下DNA荧光原位杂交（telo-FISH）研究的患者及其亲属进行了回顾。通过检索马约遗传学系统（MGS）数据库确定患者。在2002年1月至2003年12月期间，在我们实验室完成的2,170例连续telo-FISH指数病例研究中，121例或5.6%的人存在亚端粒区域异常。本报告包括2002年之前发现的18例其他异常指数病例，共产生139例异常指数病例。这代表了71例缺失的索引患者，53例衍生染色体的索引患者和15例平衡重排的索引患者。一个家族性异常被确定在29（51.8%）的56个家庭中，父母和/或同胞可用于测试。在28例缺失患者中，9例（32%）为遗传性缺失，而19例（68%）为新发缺失。对20例具有衍生染色体的索引患者的家庭成员进行了测试。其中，13例（65%）患者遗传自父母（12例来自具有平衡易位的父母，1例来自具有相同异常的父母），而7例（35%）显然是从头开始的。8例平衡易位患者中有7例（88%）遗传了双亲之一的易位。最常见的家族性异常包括8 pter缺失或重排。家族性亚端粒异常的发生率显着高，使父母telo-FISH研究的亚端粒染色体异常患者的调查的重要组成部分。(c)2005 Wiley-Liss，Inc.
In recent years, strategies have been developed to investigate the possible role of chromosomal subtelomere regions in genetic disorders. The present study was to determine the incidence of familial subtelomeric abnormalities among individuals with developmental delay, idiopathic mental retardation, or non-specific congenital abnormalities. A review was conducted for patients and their relatives on whom subtelomeric DNA fluorescence in situ hybridization (telo-FISH) studies were performed. Patients were identified through a search of the Mayo Genetics System (MGS) database. Of 2,170 consecutive telo-FISH index case studies completed in our laboratory between January 2002 and December 2003,121 or 5.6% had abnormalities of the subtelomere region. The present report includes 18 other abnormal index cases seen prior to 2002 to yield a total of 139 abnormal index cases. This represents 71 index patients with deletions, 53 index patients with derivative chromosomes, and 15 index patients with balanced rearrangements. A familial abnormality was identified in 29 (51.8%) of 56 families in whom parents and/or sibs were available for testing. Among 28 patients with deletions, 9 (32%) had an inherited deletion, whereas 19 (68%) were de novo. Family members of 20 index patients with derivative chromosomes were tested. Of these, 13 (65%) patients inherited the abnormality from a parent (12 from a parent who had a balanced translocation and I from a parent with the same abnormality), while 7 (35%) apparently arose de novo. Seven (88%) of 8 with balanced translocations inherited the translocation from one parent. The most common familial abnormalities involved 8pter deletion or rearrangement. The incidence of familial subtelomeric abnormalities is significantly high making parental telo-FISH studies an essential part of the investigation of patients with subtelomeric chromosome abnormalities. (c) 2005 Wiley-Liss, Inc.