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First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
Molecular Cytogenetics ( IF 1.3 ) Pub Date : 2019-05-18 , DOI: 10.1186/s13039-019-0432-6
Maysoon Alsagob 1 , Mustafa A Salih 2 , Muddathir H A Hamad 2 , Yusra Al-Yafee 1 , Jawaher Al-Zahrani 1 , Albandary Al-Bakheet 1 , Michael Nester 3 , Nadia Sakati 3 , Salma M Wakil 1 , Ali AlOdaib 1 , Dilek Colak 4 , Namik Kaya 1, 2
Affiliation  

15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions and their approximate breakpoints. The second deletion in both patients overlaps in a small area containing CHRNA7 where the gene is partially deleted. The CHRNA7 is considered a strong candidate for the 15q13.3 deletion syndrome's pathogenicity. Patient 1 has cognitive impairment, learning disabilities, hyperactivity and subtle dysmorphic features whereas patient 2 has mild language impairment with speech difficulty, mild dysmorphia, heart defect and interestingly a high IQ that has not been reported in 15q13.3 syndrome patients before. Our study presents first report of such two successive deletions in 15q13.3 syndrome patients and a high IQ in a 15q13.3 syndrome patient. Our study expands the breakpoints and phenotypic features related to 15q13.3 syndrome.

中文翻译:

首次报道男孩和女孩的15q13染色体细胞遗传学带上有两个连续缺失:15q13.3综合征的其他数据,并有一个高智商患者的报告。

15q13.3综合征与广泛的神经系统疾病有关。在150例神经发育病例的队列中,我们确定了2例在15q13染色体上有两个紧密相邻的间质半合子缺失的患者。使用高密度微阵列,我们表征了这些删除及其近似断点。两名患者中的第二个缺失在包含CHRNA7的小区域重叠,在该区域中基因被部分缺失。CHRNA7被认为是15q13.3缺失综合征的致病力的强大候选者。患者1具有认知障碍,学习障碍,活动过度和微妙的畸形特征,而患者2具有轻度语言障碍,包括语言障碍,轻度畸形,心脏缺陷和有趣的高智商,以前在15q13.3综合征患者中尚未见过。我们的研究首次报道了15q13.3综合征患者中的两个连续缺失和15q13.3综合征患者中的高智商。我们的研究扩展了与15q13.3综合征相关的断点和表型特征。
更新日期:2020-04-23
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