Heart disease associated with deletion of the short arm of chromosome 18.
Deletion of the short arm of chromosome 18 produces a highly variable phenotype. Mental retardation, short stature, and an abnormal facies are invariably present. About 9% of patients with this syndrome have cardiac pathology.
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Division of Pediatric Cardiology, William Beaumont Army Medical Center, El Paso, Texas 79920.
D000015:Abnormalities, Multiple; D002037:Bundle-Branch Block / Q000150:complications; D002648:Child; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005145:Face / Q000002:abnormalities; D006343:Heart Septal Defects / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007621:Karyotyping; D008297:Male; D011666:Pulmonary Valve Stenosis / Q000150:complications / Q000601:surgery