Regional analysis of OMIM disease-causing genes with duplications range comprising at least 38 genes: ABCD1, AFF2, ATP2B3, BCAP31, CCNQ, EMD, FLNA, HCFC1, IDS, L1CAM, MECP2, OPN1LW, RAB39B, RPL10, SOX3, TMLHE, IRAKl, etc. According to the clinical manifestations of the child, combined with the results of the CNV-seq analysis, MDS was confirmed. The gene discussed is L1CAM; the disease is myelodysplastic syndrome.