Single-nucleotide polymorphism (SNP) arrays have been widely used to identify novel genomic imbalances. Many of these genomic imbalances have been confirmed to interact with developmental delays, intellectual disabilities and congenital defects. Here, we identified a Chinese girl with a 3.18 Mb deletion at 12q12 (human genome build 19: 43,418,91146,601,627). Deletions at 12q12 are extremely rare chromosomal imbalances; only five cases involving a deletion of this type have previously been reported. In these six sporadic cases, all of the patients exhibited developmental issues accompanied by different degrees of intellectual disability. A review of DECIPHER patient data revealed an additional 10 cases involving genomic deletion at 12q12. Many of the patients in these cases exhibited developmental delay and intellectual disability. When these patients were included, 88% and 69% of individuals with a deletion in this chromosomal region presented with developmental retardation and intellectual defects, respectively. Database searches indicated that this copy number variant (CNV) has not been found in normal humans. Therefore, we suggest that a CNV in this region is a risk factor for developmental retardation and intellectual disability.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology