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      https://www.ias.ac.in/article/fulltext/jgen/097/01/0337-0340

    • Keywords

       

      Down’s syndrome; triple X syndrome; double trisomy; developmental delay

    • Abstract

       

      We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down’s syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditoryresponses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963).

    • Author Affiliations

       

      LAURA DANIELA VERGARA-MENDEZ1 CLAUDIA TALERO-GUTIÉRREZ1 ALBERTO VELEZ-VAN-MEERBEKE1

      1. Neuroscience research group (Neuros), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá 111221, Colombia
    • Dates

       
  • Journal of Genetics | News

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