Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

Abstract Background 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 accompanying deletions have rarely been reported. Case presentation Her...

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Bibliographic Details
Main Authors: Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli, Peter Burfeind, Iris Bartels
Format: Article
Language:English
Published: BMC 2018-12-01
Series:Molecular Cytogenetics
Subjects:
Down syndrome
Down syndrome critical region
Microduplication
Mosaicism
DYRK1A
Online Access:http://link.springer.com/article/10.1186/s13039-018-0410-4

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