在一名被诊断为波托基-卢普斯基综合征的女孩中检测到17号染色体短臂11.2区和X染色体长臂28区重复。
17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.
作者信息
Sumathipala Dulika S, Mandawala Eranda N, Sumanasena Samanmalee P, Dissanayake Vajira H W
机构信息
Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Asiri Center for Genomic and Regenerative Medicine, Narahenpita, Sri Lanka.
出版信息
BMC Res Notes. 2015 Sep 29;8:506. doi: 10.1186/s13104-015-1439-7.
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.
CASE PRESENTATION
We describe a patient from Sri Lanka that was referred for genetic assessment at 4 years of age due to subtle facial dysmorphism and expressive language impairment. She was diagnosed with Potocki-Lupski syndrome through multiplex ligation probe amplification. She carried two duplications; one in 17p11.2 consistent with Potocki-Lupski, and one in Xq including the region for X-linked intellectual disability.
CONCLUSION
Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupski syndrome. This is the first diagnosed patient in Sri Lanka.
背景
波托基-卢普斯基综合征是一种与17p11.2重复相关的微重复综合征。其特征包括面部畸形、中度至轻度认知障碍以及行为异常，包括自闭症谱系障碍。
病例报告
我们描述了一名来自斯里兰卡的患者，该患者因轻微面部畸形和表达性语言障碍在4岁时被转诊进行基因评估。通过多重连接探针扩增，她被诊断为波托基-卢普斯基综合征。她携带两个重复；一个在17p11.2，与波托基-卢普斯基综合征相符，另一个在Xq，包括与X连锁智力障碍相关的区域。
结论
尽管该患者没有预期的行为症状，但许多特征符合波托基-卢普斯基综合征。这是斯里兰卡首例确诊患者。
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