A 10.43 Mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development

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• 作者：Eduardo Santoro^a ; ^{eduu_sl@hotmail.com} ; Henrique Pandolfo^b ; ^{hen.celta@hotmail.com} ; Jill Rosenfeld^c ; ¹ ; ^{Jill.Mokry@bcm.edu} ; Salmo Raskin^b ; ^d ; ^e ; ^{genetika@genetika.com.br}
• 关键词：CGH ; Delay ; Development ; Psychomotor ; Retardation ; Mental ; Duplication ; Chromosome 5 ; 5q31.2-q32
• 刊名：Meta Gene
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：11
• 期：Complete
• 页码：169-171
• 全文大小：368 K
• 卷排序：11

文摘

We report a 4-year, 4-month-old male with a 10.43 Mb duplication of chromosome region 5q31.2-q32 presenting with a general delay in psychomotor development including moderate to severe intellectual disability, language delays and gross and fine motor delays. Based on comparison with the only case of a similar duplication reported in the literature, we suspect that an extra copy of PURA in our patient may be involved in the early onset intellectual disability and seizures. Further studies and reports of cases with similar duplications could provide additional information about the influence of this gene on the phenotype of patients with a 5q31.2-q32 duplication.