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Case ReportOpen Access

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

Volume 4 - Issue 3

Capkova Pavlina1*, Capkova Zuzana2, Trkova Marie3 and Becvarova Vera4

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    • 1Department of Medical Genetics, University Hospital Olomouc, Czech Republic
    • 2Department of Medical Genetics, Palacky University, Czech Republic
    • 3,4Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic

    *Corresponding author:Capkova Pavlína, Department of Medical Genetics, University Hospital Olomouc, I.P.Pavlova 6, Olomouc, Czech Republic

Received: April 10, 2018;   Published: May 14,2018

DOI: 10.26717/BJSTR.2018.04.001069

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We report subtelomeric deletion of 20q13.33 andduplication 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, behavioural problems, 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 toautosomal dominant epilepsy.Duplicated area included genes RABL2B, ARSA and SHANK3 spansapp. 190 kb and is associated with autistic spectrum disorders, severe speech impairment,ADHD andschizophrenia.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. We review the clinical and behavioural phenotype of subtelomeric20q deletion and 22q duplication.

Abstract| Introduction| Clinical Report| Methods| Results| Conclusion| References|