Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome - PubMed (original) (raw)
Case Reports
. 2009 Mar-Jun;52(2-3):120-2.
doi: 10.1016/j.ejmg.2009.01.002. Epub 2009 Jan 22.
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- PMID: 19284984
- DOI: 10.1016/j.ejmg.2009.01.002
Case Reports
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome
Thomy J de Ravel et al. Eur J Med Genet. 2009 Mar-Jun.
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.
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