Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region

American Journal of Medical Genetics. Part a
Marina MichelsonDorit Lev

Abstract

Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, this is a recognizable microdeletion syndrome associated with intellectual disability (ID), acquired microcephaly, typical dysmorphic features, structural anomalies of the brain, and nonspecific multiple organ anomalies. Most of the reported cases have cytogenetically visible interstitial deletions or subtelomeric microdeletions. We report on a boy with global developmental delay, distinct dysmorphic features, dysgenesis of the corpus callosum, limb anomalies, and genital hypoplasia who has a small interstitial deletion of the long arm of chromosome 6 detected by comparative genomic hybridization (CGH). The deleted region spans around 1 Mb of DNA and contains only two coding genes, ARID1B and ZDHHC14. To the best of our knowledge, this case represents the typical phenotype with the smallest deletion reported so far. We discuss the possible role of these genes in the phenotypic manifestations.

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Citations

Feb 27, 2014·European Journal of Human Genetics : EJHG·Mari-Anne ValsKatrin Õunap
Jan 13, 2016·American Journal of Medical Genetics. Part a·Luisa RonzoniDonatella Milani
Feb 13, 2015·Intractable & Rare Diseases Research·Joe C H SimPaul J Lockhart
Apr 5, 2014·American Journal of Medical Genetics. Part a·Jaime VengoecheaYuri A Zárate
Aug 30, 2016·American Journal of Medical Genetics. Part a·Joshua A SmithMichael J Lyons
Aug 3, 2017·American Journal of Medical Genetics. Part a·Beate PeterMatthew Huentelman
Aug 22, 2017·Frontiers in Molecular Neuroscience·Godwin SokporTran Tuoc
Jan 1, 2014·Frontiers in Oncology·Stefanie B MarquezDavid Reisman

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