Heart disease associated with deletion of the short arm of chromosome 18.
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.
Movahhedian
H R
HR
Medical Center of Delaware, Department of Pediatrics, Newark.
Kane
H A
HA
Borgaonkar
D
D
McDermott
M
M
Septimus
S
S
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