Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)
Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)
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DOI：
10.1002/ajmg.1182
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发表时间：
2001-04-01
期刊：
影响因子：
--
通讯作者：
Winter, RM
中科院分区：
文献类型：
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作者：
de Vries, BBA;Lees, M;Winter, RM
显微镜下可见的远端 8p 缺失与生长和精神障碍、轻微面部异常、先天性心脏缺陷和行为问题有关。我们报告了两个表兄弟患有轻度发育迟缓和行为问题，包括不适当的性行为和纵火狂。祖父一方的家族学习困难与孟德尔遗传不相容，促使端粒筛查，检测到 < 5.1 Mb 的亚显微末端 8p 缺失。表兄弟姐妹的母亲都携带 t(8;20)(p23;p13) 平衡易位，在显微镜下可见的 8pter 缺失的患者中经常观察到的小头畸形在两个表兄弟姐妹中都缺乏，这表明导致小头畸形的基因位于缺失区域的着丝粒。表兄弟姐妹中不存在心脏缺陷，证实了在其他报道的具有显微镜可见的 8pter 缺失的病例中导致这些异常的基因的位置更近，并支持 GATA4 基因的参与。此外，当前病例预测在 8 号染色体 p 臂的最端粒 5.1 Mb 中存在与行为有关的推定基因的存在。这是亚显微亚端粒 8p 缺失的第一份临床报告，使人们对所谓的“亚端粒亚端粒缺失”有了更多的了解。 8p- 综合征，并展示了对精神发育迟滞个体患者的亚显微 8pter 缺失进行临床诊断的困难 (C) 2001 Wiley-Liss, Inc.
Microscopically visible distal 8p deletions have been associated with growth and mental impairment, minor facial anomalies, congenital heart defects, and behavioral problems, We report two cousins with mild retardation and behavioral problems, including inappropriate sexual behavior and pyromania, Familial learning difficulties on the grandfather's side incompatible with Mendelian inheritance prompted telomere screening, which detected a submicroscopic terminal 8p deletion of < 5.1 Mb. The cousins' mothers both carried a t(8;20)(p23;p13) balanced translocation, The frequently observed microcephaly in patients with microscopically visible deletions of 8pter is lacking in both cousins, suggesting that the gene(s) causing the microcephaly is centromeric to the deleted region. The absence of cardiac defects in the cousins confirms the more proximal location of gene(s) causing these abnormalities in other reported cases with microscopically visible 8pter deletions and supports involvement of the GATA4 gene, Moreover, the current cases predict the presence of a putative gene(s) involved in behavior in the most telomeric 5.1 Mb of the p-arm of chromosome 8, This first clinical report of a submicroscopic subtelomeric 8p deletion gives more insight into the so-called 8p- syndrome and demonstrates the difficulty in making a clinical diagnosis for a submicroscopic 8pter deletion in an individual patient with mental retardation (C) 2001 Wiley-Liss, Inc.