22
Sep
Large X Chromosome Duplication & Familial Generalized Dystonia
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A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia Recent studies have shown how genetic changes to sex chromosomes can be observed in patients with tremor and parkinsonism. Examples include monogenic dystonic conditions involving genes on the X-chromosome—TAF1, ATRX, and HPRT1, which result in... Read More
01
Oct
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome Almost 50 years ago, in 1975, Simpson et al1. reported a new syndrome manifested by overgrowth, coarse facial features and developmental delay. The most typical picture was found in boys, whereas their mothers usually revealed much milder defects, if any. It definitely showed that it is an X-linked... Read More