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Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.

ABSTRACT: Chromosome 7q11.23 duplication syndrome is a well-recognised syndrome which involves the duplication of the same genes located in the Williams-Beuren critical region. However, in 2010, 4 patients were reported with a microduplication only in the HIP1 and YWHAG genes. We refer to this as a distal 7q11.23 duplication (dup7q11.23D). Here, we report the fifth de novo patient with dup7q11.23D, whose symptoms may be explained by YWHAG overexpression as was demonstrated recently in mice and obese patients. Finally, further studies will be necessary to delineate this emerging microduplication syndrome.

SUBMITTER: Faundes V

PROVIDER: S-EPMC5109990 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.

Faundes Víctor V Santa María Lorena L Morales Paulina P Curotto Bianca B Parraguez María M MM

Molecular syndromology 20160824 5

Chromosome 7q11.23 duplication syndrome is a well-recognised syndrome which involves the duplication of the same genes located in the Williams-Beuren critical region. However, in 2010, 4 patients were reported with a microduplication only in the HIP1 and YWHAG genes. We refer to this as a distal 7q11.23 duplication (dup7q11.23D). Here, we report the fifth de novo patient with dup7q11.23D, whose symptoms may be explained by YWHAG overexpression as was demonstrated recently in ...[more]

PMID: 27867344

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The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.

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