Genetic and anthropometric studies of Prader-Willi syndrome

ABSTRACT

This study included 26 Prader-Willi syndrome [PWS] cases. Full clinical examination, pedigree analysis and intelligent quotient [IQ]were carried out. Fifteen anthropometric parameters, including longitudinal and transverse body and head measurements as well as two derived indices, were taken. Cytogenetic studies using G-banding and high resolution techniques were performed. According to chromosomal profile, the cases were divided into three groups Cases with 15q deletions, cases with normal chromosomes and cases with chromosome 15 rearrangements. The study showed that the most characteristic anthropometric finding of PWS was truncal obesity and the variability in chromosomal pattern had no marked influence on the anthropometric findings. The cytogenetic results suggested that PWS is due to chromosome 15 imbalance