Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
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5q14.3-q21 间质缺失与虹膜缺损、听力损失、牙齿异常、中度智力障碍、注意力缺陷和多动障碍相关。
DOI：
10.1002/ajmg.a.33079
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发表时间：
2009
期刊：
影响因子：
--
通讯作者：
Wang,Tao
中科院分区：
文献类型：
--
作者：
Sobreira,Nara;Walsh,MichaelF;Batista,Denise;Wang,Tao
到目前为止，已报告了大约46例宪法间隙5q缺失[Baekvad-Hansen等人，2006年；Malan等人，2006年；Tzschach等人，2006年；Cardoso等人，2009年]。这些病例中的大多数是以标准的核型分析方法为特征的，因此，准确描述这些患者的细胞遗传学缺陷对于了解他们的临床表型，揭示其发病机制的新基因，以及区分人类基因组中导致疾病的基因组失衡和良性拷贝数变异是重要的。近年来，荧光原位杂交(FISH)和阵列比较基因组杂交(ACGH)等新的分子细胞遗传学方法被用于准确表征导致人类疾病表型的染色体异常[Higgins等人，2008]。
Approximately, 46 cases of constitutional interstitial 5q deletion have been reported to date [Baekvad-Hansen et al., 2006; Malan et al., 2006; Tzschach et al., 2006; Cardoso et al., 2009]. The majority of these cases were characterized by standard karyotyping methods, hence, delineation of the precise cytogenetic defects in these patients is important to understand their clinical phenotype, implicate novel genes that underlie the pathogenesis, and differentiate disease-causing genomic imbalances from benign copy number variations in the human genome. In recent years, novel molecular cytogenetic methods such as fluorescent in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) have been employed to accurately characterize chromosome abnormalities that cause human disease phenotype [Higgins et al., 2008].