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Title: Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay
Authors: Hannes, Femke
Drozniewska, Malgorzata
Vermeesch, Joris ×
Haus, Olga #
Issue Date: May-2010
Publisher: Elsevier
Series Title: European Journal of Medical Genetics vol:53 issue:3 pages:136-140
Abstract: Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560kb duplication overlapping this critical locus. The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies. Interestingly, the duplication phenotype overlaps partially with the deletion phenotype. However, his facial phenotype differs from the typical WHS gestalt.
URI: 
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
× corresponding author
# (joint) last author

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