Journals on Medical Drug and Therapuetics

Abstract

We report #subtelomericdeletion of 20q13.33 and #duplication 22q13.33 resulting from unbalanced de novo translocation t(20;22) (q13.33;q13.33) in 6-year-old girl with mild mental disability, speech delay, #behaviouralproblems, growth delay, microcephaly,minor dysmorphic features,detected by MLPA and SNParray. Deletion spanning 1,6 Mb included, apart from ARFGAP1 and MYT1, genesKCNQ2 and CHRNA4, which are linked to #autosomal dominant epilepsy. Duplicated area included genes RABL2B, ARSA and SHANK3 spansapp. 190 kb and is associated with autistic #spectrum disorders, severe speech impairment,ADHD and #schizophrenia.Whereas the terminal deletion of 22q is known as Phelan McDermid syndrome, the duplication of the same region is not so frequently reported. Subtelomeric 20q deletions are rare, and deletions resulting from #translocation were reported only in a few cases.

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Shank3 Duplication in Patient with an Unbalanced Translocation (20;22)(Q13.33;Q13.33) by Capkova Pavlína in BJSTR