GEOapplication/xmlftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE8nnn/GSE8090/primaryOK2000000GenomicsHomo sapiensGenome variation profiling by genome tiling arrayhttps://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE8090GEOGSE0falseFine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephalyIn this study we report a female patient with an interstitial duplication of a region (10q22-q23) which is rarely reported in the literature. We fine mapped the duplication with array CGH, which revealed an 18.6 Mb duplication at 10q22.2-q23.33. There were no other deletions or duplication at another chromosome region. The duplicated region includes 89 annotated genes. The main clinical features of the patient are microcephaly and congenital heart disease. These are likely to be caused by dosage effect of one or several genes in the duplicated region. Finding of similar phenotypes in the other patients with 10q11-q22 duplications and in two out of three patients with 10q22-q23 duplications, suggest presence of genes involved in the development of these features at 10q22. Most of the duplication cases were investigated only by conventional chromosome analyses and fine mapping of these duplications will help identifying candidate genes/regions. Keywords: Array CGH2007/10/01GSE8090GSM20058050008090Homo sapiens