Article
No evidence for uniparental disomy as a common cause of Sotos syndrome.
Journal of medical genetics - 1 Jan 1997
Smith M, Fullwood P, Qi Y, Palmer S, Upadhyaya M, Cole T
Abstract excerpt
A number of rare diseases (including Sotos syndrome) of unknown aetiology, which occur mainly sporadically and with features of growth disorder and developmental delay, may be caused by imprinted genes and therefore be associated with UPD. Using 112 dinucleotide repeat DNA polymorphisms, we have examined parental inheritance of all autosome pairs, except chromosome 15, in 29 patients with Sotos syndrome. All...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.