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Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region

Authors

  • Marina Michelson,

    1. Institute of Medical Genetics, Wolfson Medical Center, Holon, Jerusalem, Israel
    2. Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Jerusalem, Israel
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  • Anat Ben-Sasson,

    1. Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Jerusalem, Israel
    2. Pediatric Neurology Unit, Wolfson Medical Center, Holon, Jerusalem, Israel
    3. Maccabi Health Services, Tel-Aviv, Israel
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  • Chana Vinkler,

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

    1. Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Jerusalem, Israel
    2. Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Jerusalem, Israel
    3. Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel
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  • Ifat Netzer,

    1. Institute of Medical Genetics, Wolfson Medical Center, Holon, Jerusalem, Israel
    2. Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Jerusalem, Israel
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  • Ayala Frumkin,

    1. Monique and Jacques Roboh Department of Genetic Research, The Department of Genetic and Metabolic Diseases, The Hebrew University Medical Center, Jerusalem, Israel
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  • Sara Kivity,

    1. Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Jerusalem, Israel
    2. Pediatric Neurology Unit, Wolfson Medical Center, Holon, Jerusalem, Israel
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  • Tally Lerman-Sagie,

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

    Corresponding author
    1. Institute of Medical Genetics, Wolfson Medical Center, Holon, Jerusalem, Israel
    2. Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Jerusalem, Israel
    3. Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel
    • Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
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  • How to Cite this Article: Michelson M, Ben-Sasson A, Vinkler C, Leshinsky-Silver E, Netzer I, Frumkin A, Kivity S, Lerman-Sagie T, Lev D. 2012. Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region. Am J Med Genet Part A. 158A:1395–1399.

Abstract

Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, this is a recognizable microdeletion syndrome associated with intellectual disability (ID), acquired microcephaly, typical dysmorphic features, structural anomalies of the brain, and nonspecific multiple organ anomalies. Most of the reported cases have cytogenetically visible interstitial deletions or subtelomeric microdeletions. We report on a boy with global developmental delay, distinct dysmorphic features, dysgenesis of the corpus callosum, limb anomalies, and genital hypoplasia who has a small interstitial deletion of the long arm of chromosome 6 detected by comparative genomic hybridization (CGH). The deleted region spans around 1 Mb of DNA and contains only two coding genes, ARID1B and ZDHHC14. To the best of our knowledge, this case represents the typical phenotype with the smallest deletion reported so far. We discuss the possible role of these genes in the phenotypic manifestations. © 2012 Wiley Periodicals, Inc.

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