Title: Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome
Authors: de Ravel, Thomy ×
Balikova, Irina
Thiry, Paul
Vermeesch, Joris
Fryns, Jean-Pierre #
Issue Date: Mar-2009
Series Title: European Journal of Medical Genetics vol:52 issue:2-3 pages:120-122
Abstract: A male patient, who had intra-uterine growth retardation, a low birth weight and hypotonia due to a chromosome 2q33.1 deletion, is described. At the age of 20 years, he displays short stature, microcephaly, a high forehead, microstomia, large teeth and is hypertonic. He is severely mentally retarded, has not developed speech, is hyperactive, anxious and at times aggressive. Full tiling array showed a de novo 14 Mb deletion at chromosome region 2q32.3q33.2, further delineating the 2q33.1 microdeletion syndrome.
ISSN: 1769-7212
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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