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Subtelomeric rearrangements involving chromosome 6q have been reported in a limited number of studies. Although the sizes are very variable, ranging from cytogenetically visible deletions to small submicroscopic deletions, a common recognizable phenotype associated with a 6q deletion could be distilled. The main characteristics are intellectual disabilities, hypotonia, seizures, brain anomalies, and specific dysmorphic features including short neck, broad nose with bulbous tip, large and low-set ears and downturned corners of the mouth. In this article we report on a female patient, carrying a reciprocal balanced translocation t(5;6)(q23.1;q26), presenting with a clinical phenotype highly similar to the common 6q- phenotype. Breakpoint analysis using array painting revealed that the Quaking (QKI) gene that maps in 6q26 is disrupted, suggesting that haploinsufficiency of this gene plays a role in the 6q- clinical phenotype. Copyright 2010 Wiley-Liss, Inc.

Citation

Liesbeth Backx, Jean-Pierre Fryns, Carlo Marcelis, Koen Devriendt, Joris Vermeesch, Hilde Van Esch. Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. American journal of medical genetics. Part A. 2010 Feb;152A(2):319-26

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PMID: 20082458

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