14q32.3 deletion syndrome with autism

Department of Laboratory Medicine & Pathology, Mayo Clinic - Rochester, Рочестер, Minnesota, United States
American Journal of Medical Genetics Part A (Impact Factor: 2.16). 02/2005; 133A(1):99-100. DOI: 10.1002/ajmg.a.30462
Source: PubMed
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    • "terminal deletion have been reported, and although quite rare, a phenotype of the " 14q32.3 deletion syndrome " has been established [5] [6] [7]. There are 23 specific clinical features attributed to Dubowitz syndrome; only two of which are specifically not part of the 14q32.3 "
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    ABSTRACT: We report a 4-year-old girl of Mexican origins with a clinical diagnosis of Dubowitz syndrome who carries a de novo terminal deletion at the 14q32.33 locus identified by array comparative genomic hybridization (aCGH). Dubowitz syndrome is a rare condition characterized by a constellation of features including growth retardation, short stature, microcephaly, micrognathia, eczema, telecanthus, blepharophimosis, ptosis, epicanthal folds, broad nasal bridge, round-tipped nose, mild to moderate developmental delay, and high-pitched hoarse voice. This syndrome is thought to be autosomal recessive; however, the etiology has not been determined. This is the first report of this deletion in association with this phenotype; it is possible that this deletion may be causal for a Dubowitz phenocopy.
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