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

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 7q1...

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Bibliographic Details
Published in:Molecular syndromology 2016-10, Vol.7 (5), p.287-291
Main Authors: Faundes, Víctor, Santa María, Lorena, Morales, Paulina, Curotto, Bianca, Parraguez, María M.
Format: Article
Language:English
Subjects:
Short Report
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Summary: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.
ISSN:1661-8769
1661-8777
DOI:10.1159/000448698