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 consid- ered when evaluating a patient with phenotypic anomalies and CHD in lateralization defects.
Digilio
M C
MC
Medical Genetics and Pediatric Cardiology, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net
Marino
B
B
Giannotti
A
A
Di Donato
R
R
Dallapiccola
B
B
D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006325:Heart Atria / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant