title: Heart disease associated with deletion of the short arm of chromosome 18.
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.
authors.affiliation: Medical Center of Delaware, Department of Pediatrics, Newark.
authors.forename: H R
authors.initials: HR
authors.lastname: Movahhedian
authors.forename: H A
authors.initials: HA
authors.lastname: Kane
authors.forename: D
authors.initials: D
authors.lastname: Borgaonkar
authors.forename: M
authors.initials: M
authors.lastname: McDermott
authors.forename: S
authors.initials: S
authors.lastname: Septimus
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics