Familial situs inversus and congenital heart defects.
The midline is a major determinant in the lateral symmetry of the embryo and represents a developmental field which, if defective, may lead to an abnormal situs determination. A family in which four out of seven children had situs inversus and/or congenital heart defects is presented. This report confirms the autosomal recessive inheritance of this developmental field defect.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D012857:Situs Inversus / Q000235:genetics*