title: Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.
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.
authors: Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
authors: Ayelet
authors: A
authors: Zerem
authors: Chana
authors: C
authors: Vinkler
authors: Marina
authors: M
authors: Michelson
authors: Esther
authors: E
authors: Leshinsky-Silver
authors: Tally
authors: T
authors: Lerman-Sagie
authors: Dorit
authors: D
authors: Lev
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16; D055028:Comparative Genomic Hybridization; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000175:diagnosis / Q000235:genetics*; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy
chemical_list: D005819:Genetic Markers