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  • Title: Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
    Author: Pallotta R.
    Journal: J Med Genet; 1991 May; 28(5):342-4. PubMed ID: 1865474.
    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.
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