Heterotaxy with left atrial isomerism in a patient with deletion 18p

We report on a female infant with partial deletion of the short arm of chromosome 18 (del 18p) and heterotaxy with left atrial isomerism, Congenital heart defect (CHD) is found in 10% of the literature reports. Interestingly, situs abnormalities have been diagnosed in four patients with del 18p, including ours. This finding could imply that a locus or loci involved in the development of normal body situs lies within this chromosomal region. Del 18p must be considered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects. (C) 2000 Wiley-Liss, Inc.