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X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

✍ Scribed by ACJ Gijsbers; NS Den Hollander; ATJM Helderman-van de Enden; JHM Schuurs-Hoeijmakers; L Vijfhuizen; EK Bijlsma; A Van Haeringen; KBM Hansson; E Bakker; MH Breuning; CAL Ruivenkamp

Book ID
110889045
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
669 KB
Volume
79
Category
Article
ISSN
0009-9163

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## Abstract In XY males, duplication of any part of the X chromosome except the pseudoautosomal region leads to functional disomy of the corresponding genes. We describe three unrelated male patients with mental retardation (MR), absent or delayed speech, and recurrent infections. Using high‐resolu