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Mosaic marker chromosome 16 resulting in 16q11.2–q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

Authors

  • Ayelet Zerem,

    1. Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
    2. Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel
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  • Chana Vinkler,

    1. Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel
    2. Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel
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  • Marina Michelson,

    1. Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel
    2. Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel
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  • Esther Leshinsky-Silver,

    1. Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel
    2. Molecular Laboratory, Wolfson Medical Center, Holon, Israel
    3. Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
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  • Tally Lerman-Sagie,

    1. Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel
    2. Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel
    3. Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
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  • Dorit Lev

    Corresponding author
    1. Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel
    2. Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel
    3. Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
    • Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
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  • How to Cite this Article: Zerem A, Vinkler C, Michelson M, Leshinsky-Silver E, Lerman-Sagie T, Lev D. 2011. Mosaic marker chromosome 16 resulting in 16q11.2–q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia. Am J Med Genet Part A 155: 2991–2996.

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. © 2011 Wiley Periodicals, Inc.

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