11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

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. We first report the 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies. 11p11.12p12 duplication syndrome was identified by karyotype analysis. Next-generation sequencing (NGS) analysis clarified the location of the chromosomal variations, which was confirmed by chromosome microarray analysis (CMA). Whole-exome sequencing (WES) was performed to exclude single nucleotide variations (SNVs). The raw data of NGS analysis and WES have been submitted to SRA, the accession number is PRJNA713823. Karyotype analysis was performed in 6 main members of the family to identify the 11p11.12p12 duplication syndrome genetic aetiology. 11 members of the family underwent next-generation sequencing analysis, which was also performed in 7270 pregnant women to detect chromosomal microdeletions and microduplications for prenatal diagnosis. CMA was used to confirm the location of the chromosomal variations in the family and detect chromosomal microdeletions and microduplications in 2906 pregnant women for prenatal diagnosis. Whole-exome sequencing (WES) was performed to exclude single nucleotide variations (SNVs). In order to be scientifically rigorous and avoid methodological differences, we used chromosome microarray analysis to confirm the the chromosomal variation sites of two samples with clinical phenotypes in the family.