INTERSTITIAL 6Q DELETION AND PRADER-WILLI-LIKE PHENOTYPE

A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is pre sented. Although preliminary clinical evaluation in each case suggeste d PWS, further review revealed that the features in all three cases ar e not completely compatible with the characteristic findings in Prader -Willi syndrome. Furthermore, the deletions in the three cases do not show a consistent region of overlap. Consequently, no particular band or region in 6q can be defined as associated with obesity. However, ou r findings confirm the suggestion of Villa et al. in 1995, that indivi duals with a PWS phenotype who are cytogenetically and molecularly neg ative for a deletion of 15q11-q13 should be examined for a deletion of 6q.