Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.
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DOI: 10.1016/j.ejmg.2017.06.003
Abstract: Using SNP array and FISH analysis, a patient with moderate intellectual disability and obesity was found to harbour an atypical 1.6 Mb inverted duplication on 8p23.1, directly flanked by a distally located interstitial deletion of 2.3 Mb… read more here.
Keywords: duplication; intellectual disability; disability obesity; duplication deletion ... See more keywords