17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome

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• 作者：Dulika S. Sumathipala ; Eranda N. Mandawala ; Samanmalee P. Sumanasena…
• 关键词：Potocki–Lupski ; Multiplex ligation probe amplification ; Sri Lanka
• 刊名：BMC Research Notes
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：8
• 期：1
• 全文大小：1,024 KB
• 刊物主题：Biomedicine general; Medicine/Public Health, general; Life Sciences, general;
• 出版者：BioMed Central
• ISSN：1756-0500

文摘

Background Potocki–Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders.