Familial de Lange Syndrome with Chromosome Abnormalities

The report of Falek, Schmidt, and Jervis on "Familial de Lange Syndrome With Chromosome Abnormalities" (Pediatrics, 37:92, 1966) deserves comment. Our main point can be summarized as follows: to date no consistent or etiologically satisfying chromosomal abnormality has been reported in the Cornelia de Lange syndrome (CDLS); the cases reported by Falek and coworkers do not impress us as representing the CDLS; and since Falek, et al. present good evidence that their patients have partial trisomy, we think that it is more reasonable to postulate that these patients represent a new multiple anomaly syndrome due to partial trisomy.