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Research Article
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
  1. R Pallotta
  1. Istituto di Pediatria e Ostetricia, Ospedale Pediatrico, Chieti, Italy.

    Abstract

    A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.

    https://doi.org/10.1136/jmg.28.5.342

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