Genomics

Dataset Information

31

Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly


ABSTRACT: In 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 CGH Overall design: One patient with congenital heart defect and microcephaly was analyzed with submegabase resolution array CGH. No dye-swops no replicates was done

INSTRUMENT(S): MPIMG Homo sapiens 44K ArrayCGH4

SUBMITTER: Fikret Erdogan  

PROVIDER: GSE8090 | GEO | 2007-10-01

SECONDARY ACCESSION(S): PRJNA100937

REPOSITORIES: GEO

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