Chromosome Findings in the Prader-Willi Syndrome

Abstract

The association between chromosome abnormalities and the Prader-Willi Syndrome (PWS) was first tabulated by Hawkey and Smithies. 1976. These authors listed 8 reports which suggested to them that a D Group chranaome was commonly involved and they urged that banding should be done in these cases to elicit the nature ofthe D group chromosome. Since that time agreat deal ofwork hasbemdareonthe cytosenetia ofthe PWS and chromosome 15 has clearly been shown to be the D group chromosome involved This report brings up to date the cytogenetic data on the PWS.

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome

“…These may be Robertsonian translocations, reciprocal translocations, duplications, inversions or extra marker chromosomes. However, cytogenetically similar chromosomal abnormalities with breakpoints in the 15q11-13 region may be found in individuals without PWS (Mattei et al Offprint requests to: A. Smith 1984;Smith 1986;Greenberg and Ledbetter 1987;Butler 1990).…”