Partial trisomy 1 (q42→ter)

Authors

  • J. Leisti,

    Corresponding author
    1. Children's Hospital and Laboratory of Prenatal Genetics, Department of Obstetrics and Gynecology, University of Helsinki, Helsinki, Finland
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  • P. Aula

    1. Children's Hospital and Laboratory of Prenatal Genetics, Department of Obstetrics and Gynecology, University of Helsinki, Helsinki, Finland
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M.D. Rinnekoti Foundation 02980 Espoo 98 Finland

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→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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