Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without ...
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli, Peter Burfeind and Iris Bartels Tags: Case Report Source Type: research
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