title: Comparative anatomical analysis of human trisomies 13, 18, and 21: I. The forelimb.
abstract: Human trisomies 13, 18, and 21 exhibit specific neuromuscular phenotypes (Pettersen and Bersu, '82) which include a high proportion of neuromuscular forelimb variations, many of which are atavistic in nature (de Beer, '58; Barash et al., '79; Aziz, '81a). In order to test the neuromuscular phenotype, examine the atavistic nature, and analyze the developmental delay of the trisomy forearm musculature, we dissected the forelimbs of five trisomy 13, ten trisomy 18, and two trisomy 21 cases. Our dissections compare favorably with the existing published trisomy cases (Opitz et al., '79; Pettersen and Bersu, '82). Additionally, we found significant differences in the stage at which developmental arrest occurred in trisomies 13 and 18 for the pectoral complex, extensor digitorum profundus, and intrinsic hand musculature. Some of these muscles, which occur normally in nonhuman primates (Cihak, '67, '69; Dunlap et al., '85), also appear briefly in normal human ontogeny (Cihak, '72), constituting further evidence for developmental delay in aneuploids. The disproportionately effected limb tissues also lend support to the evidence for some degree of autonomy in their development in normal individuals. Our observations are consistent with Shapiro's amplified developmental instability model ('83). Aneuploids may be viewed as genetic variants from which much may be learned about normal limb development, how aneuploidy affects dysmorphogenesis, and the kind of information which exists on the duplicated (or monosomic) chromosome.
mesh_terms: D000328:Adult; D000818:Animals; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D004314:Down Syndrome / Q000473:pathology; D005552:Forelimb / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D009132:Muscles / Q000002:abnormalities*; D009469:Neuromuscular Junction / Q000002:abnormalities; D010369:Pectoralis Muscles / Q000002:abnormalities; D010641:Phenotype; D014314:Trisomy