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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/097/01/0311-0317

    • Keywords

       

      duplication of 2q31.2 and 2q37.3; monosomy 9p; array CGH

    • Abstract

       

      We describe a newborn female with a de novo duplication of chromosomes 2q31.2 and 2q37.3, and a de novo monosomy 9p24.3. The clinical findings of this patient include congenital heart defects, dysmorphic facial features, hypotonia, feeding difficulties and microcephaly. Ultrasonographic prenatal findings were negative for foetal malformations. Only a mild pyelectasis was reported. This is the first report of molecular cytogenetic characterization of a partial trisomy 2q31.2–37.3 with monosomy 9p24.3.

    • Author Affiliations

       

      MAURIZIA COLANGELO1 MELISSA ALFONSI2 CHIARA PALKA3 ELEONORA DI ZIO1 SILVANA DI RENZO1 PAOLO GUANCIALI-FRANCHI1 2 GIANDOMENICO PALKA1 2

      1. Department of Medical Genetics, University G. D’Annunzio, Chieti 65100, Italy
      2. Department of Medical Genetics, SS Annunziata Hospital, Chieti 65100, Italy
      3. Department of Pediatrics, University G. D’Annunzio, Chieti 65100, Italy

    • Dates

       
      Published
      March 2018
      Manuscript received
      10 November 2016
      Manuscript revised
      13 March 2017
      Accepted
      21 March 2017

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      Posted on July 25, 2019

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