Chromosome 18 aneuploidy: anatomical variations observed in cases of full and mosaic trisomy 18 and a case of deletion of the short arm of chromosome 18.

Cases of full and mosaic trisomy 18 and a body of an infant with the 18p-syndrome were dissected in detail to compare the anatomical variations associated with these 3 chromosome imbalances involving autosome 18. The types and numbers of morphologic variations present in both the full and mosaic trisomy 18 bodies were similar to the types and numbers of variations seen in all other cases of full trisomy 18 that have been studied by gross dissection. Apart from an atrial septal defect, the body of the infant with the 18p- imbalance showed only 2 striking defects: 1) deficiencies of the levator palpebrae superioris muscle of the upper eyelid, and 2) absence of the ligament of the head of the femur. The first variation provides a morphologic basis to explain the ptosis which is observed frequently in affected individuals. Absence of the ligament of the head of the femur may be a factor contributing to congenital dislocation of the hip, which is reported occasionally in affected individuals. In addition to providing more detailed information about the phenotype of individual aneuploidy syndromes, studies of cases of different imbalances of single autosomes may provide additional insights about the genotype/phenotype relationships of specific chromosome segments.