Article
11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.
BMC medical genomics - 9 Apr 2021
Chen Xuejiao, Xu Huihui, Shi Weiwu, Wang Feng, Xu Fenfen, Zhang Yang, Gan Jun, Tian Xiong, Chen Baojun, Dai Meizhen
Abstract excerpt
BACKGROUND: Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a syndrome with a PSS-like clinical phenotype caused by 11p11.12p12 duplication has not yet been reported. METHODS: 11p11.12p12 duplication syndrome was identified and evaluated using a...
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