Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.
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.
de Ravel
Thomy J
TJ
University Hospitals of Leuven, Center for Human Genetics, Herestraat 49, B-3000 Leuven, Belgium. thomy.deravel@uz.kuleuven.ac.be
Balikova
Irina
I
Thiry
Paul
P
Vermeesch
Joris R
JR
Frijns
Jean-Pierre
JP
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D008297:Male; D013577:Syndrome; D055815:Young Adult