Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
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DOI：
10.1016/j.ejmg.2010.10.003
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发表时间：
2011-01-01
影响因子：
1.9
通讯作者：
Giardino, Daniela
中科院分区：
文献类型：
--
作者：
Ballarati, Lucia;Cereda, Anna;Giardino, Daniela
我们描述了一名6岁的男孩，通过寡核苷酸阵列比较基因组杂交（阵列CGH）发现染色体8p23.1重新出现5mb间质缺失，他表现出8p23.1缺失综合征的典型症状，包括先天性心脏缺陷、小头畸形、精神运动迟缓和行为问题。为了估计建议的候选基因的作用，我们将患者的缺失与其他先前报道的和基于当前遗传图谱数据重新评估的分子特征缺失进行了比较。在缺失间隔中包含TNKS基因而没有任何Cornelia de Lange综合征（CdLS）的表型体征，使TNKS作为该综合征本身的合理候选基因无效。(C) 2010 Elsevier Masson SAS。版权所有。
We describe a 6-year-old boy carrying a de novo 5 Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array CGH), who showed the typical signs of 8p23.1 deletion syndrome, including congenital heart defects, microcephaly, psychomotor delay and behavioural problems. In order to estimate the role of suggested candidate genes, we compared the deletion of our patient with other previously reported and molecularly characterised deletions that have been re-evaluated on the basis of the current genetic map data. The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself. (C) 2010 Elsevier Masson SAS. All rights reserved.