Three infants were born with serious limb defects (reduction malformations) and chromosomal anomalies. Other cases of skeletal malformations of the extremities that are associated with cytogenetic changes have been previously reported. The chromosomal anomaly usually is betrayed by associated malformations rather than by the type of limb defect. The recognition of the cytogenetic basis of limb malformation is of importance because it may influence the individual prognosis and genetic counseling.
Bofinger MK, Dignan PSJ, Schmidt RE, Warkany J. Reduction Malformations and Chromosome Anomalies. Am J Dis Child. 1973;125(1):135-143. doi:10.1001/archpedi.1973.04160010095024