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  • Title: Heart disease associated with deletion of the short arm of chromosome 18.
    Author: Movahhedian HR, Kane HA, Borgaonkar D, McDermott M, Septimus S.
    Journal: Del Med J; 1991 May; 63(5):285-9. PubMed ID: 1860515.
    Abstract:
    Deletion of the short arm of chromosome 18 provides a highly variable phenotype. Mental retardation, short stature, and abnormal facies are invariably present. About 9 percent of patients with this syndrome have cardiac pathology. An additional case with congenital heart disease has been presented along with a review of the literature concerning the association of congenital heart disease and the 18p- syndrome.
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