NO EVIDENCE FOR UNIPARENTAL DISOMY AS A COMMON-CAUSE OF SOTOS SYNDROME

A number of rare diseases (including Sotos syndrome) of unknown aetiol ogy, which occur mainly sporadically and features of growth disorder a nd developmental delay, may he caused by imprinted genes and therefore be associated with UPD. Using 112 dinucleotide repeat DNA polymorphis ms, we have examined parental inheritance of all autosome pairs, excep t chromosome 15, in 29 patients with Sotos syndrome. All informative c ases showed biparental inheritance and no cases of UPD were found. We conclude that Sotos syndrome is either not caused by an imprinted gene or that UPD is rare or of a segmental form in its aetiology.