Article
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
European journal of medical genetics - 1 Apr 2023
Hamad Asma, Sherlaw-Sturrock Charlotte A, Glover Kate, Salmon Rachel, Low Karen, Nair Ramya, Sansbury Francis H, Rawlins LettieE, Carmichael Jenny, Horton Rachael, Wedderburn Sarah, Edgerley Katherine, Irving Rachel, Callaghan Mary, Mercer Catherine, McGowan Ruth, Robert Leema, Titheradge Hannah, Naik Swati
Abstract excerpt
INTRODUCTION: Recurrent chromosome 16p13.11 microduplication has been characterised in the literature as a cause of developmental delay, learning difficulties and behavioural abnormalities. It is a neurosusceptibility locus and has incomplete penetrance and variable expression. Other clinical features, such as cardiac abnormalities have also been reported. The duplicated region contains the MYH11 gene, which...
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