Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia |
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Authors: | Zerem Ayelet Vinkler Chana Michelson Marina Leshinsky-Silver Esther Lerman-Sagie Tally Lev Dorit |
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Institution: | Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. |
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Abstract: | Proximal duplications of the long arm of chromosome 16 are rare and only a few patients have been reported. Clinically, the patients do not have a distinctive syndromic appearance; however they all show some degree of intellectual disability and most have severely delayed speech development. We report on a child presenting with mild-to-moderate intellectual disability, microcephaly, language dyspraxia, and mild dysmorphisms who was found to have a mosaic gain of chromosome 16q (16q11.2-16q12.1). Magnetic resonance imaging done at the age of 4 years demonstrated cerebellar cortical dysplasia involving the vermis and hemispheres. This is the first report of cerebellar anomalies in a patient with partial trisomy 16q. The genes ZNF423 and CBLN1 found in the duplicated region play a role in the development of the cerebellum and may be responsible for the cerebellar cortical dysplasia. |
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Keywords: | 16q11 2 interstitial duplication cerebellar cortical dysplasia intellectual disability CGH‐microarray |
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