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Research Article
Partial trisomy 1(q42-->qter): a new case with a mild phenotype.
  1. D Concolino,
  2. R Cinti,
  3. L Ferraro,
  4. M T Moricca,
  5. P Strisciuglio
  1. Department of Paediatrics, Faculty of Medicine, University of Reggio Calabria, Ospedale A Pugliese, Catanzaro, Italy.

    Abstract

    We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.

    https://doi.org/10.1136/jmg.35.1.75

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