Literature DB >> 27867344

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

Víctor Faundes1, Lorena Santa María1, Paulina Morales1, Bianca Curotto1, María M Parraguez2.   

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.

Entities:  

Keywords:  Chromosome 7q11.23 region; Development delay; HIP1; Williams-Beuren duplication syndrome; YWHAG

Year:  2016        PMID： 27867344      PMCID： PMC5109990          DOI： 10.1159/000448698

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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4.  Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

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8.  The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

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9.  Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

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