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      https://www.ias.ac.in/article/fulltext/jgen/099/0072

    • Keywords

       

      cytogenetics; satellite chromosome; fluorescence in situ hybridization; marker chromosome; uniparental disomy

    • Abstract

       

      We report a rare case of a 14-month-old male child who was referred for developmental delay. Clinical examination revealed a hypotonic infant with speech delay and no dysmorphic features. The banding cytogenetics revealed a small supernumerary marker chromosome. Upon silver staining, the marker showed the presence of satellite regions on either ends. Further, analysis using fluorescence in situ hybridization on marker chromosome revealed its origin from chromosome 15.

    • Author Affiliations

       

      MADHAVAN JEEVAN KUMAR1 2 KALPANA GOWRISHANKAR2 VENKATASUBRAMANIAN HEMAGOWRIK1 2 JAYARAMA KADANDALE3

      1. Department of Genetic Engineering, SRM Institute of Science and Technology, Kattankulathur 603 203, India
      2. Department of Medical Genetics, CHILDS Trust Medical Research Foundation (CTMRF), Kanchi Kamakoti CHILDS Trust Hospital, Chennai 600 034, India
      3. Department of Molecular Cytogenetics, Centre for Human Genetics, Bengaluru 560 100, India

    • Dates

       
      Published
      12 September 2020
      Manuscript received
      17 December 2019
      Manuscript revised
      16 June 2020
      Accepted
      17 June 2020

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      Posted on July 25, 2019

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