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  • Title: Partial trisomy 1 (q42 leads to ter).
    Author: Leisti J, Aula P.
    Journal: Clin Genet; 1980 Nov; 18(5):371-8. PubMed ID: 7460373.
    Abstract:
    Clinical findings on three closely related, severely malformed infants and a 20-week-old fetus with an identical partial trisomy of chromosome 1 (1q42 leads to ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide sutures and fontanels, characteristic facial features, colobomata of the iris, small hands and feet, and early death.
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