Chromosomal Deletion Syndromes [Summary]

Group G deletion syndromes.

Heterotaxia syndromes and 22q11 deletion.

1 Binedell J, Soldan JR, Harper PS. Selection for presymptomatic testing for Huntington's disease: who decides? J Med Genet 1996;33:1734. 2 World Federation of Neurology: Research Committee Research Group. Ethical issues policy statement on Huntington's disease molecular genetics predictive test. J Neurol Sci 1989;94: 327-32. 3 Clinical practice in medical genetics. Guidelines for the molecular...

Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes

Investigating the relationship between genes and the neural substrates of complex human behavior promises to provide essential insight into the pathophysiology of mental disorders. One approach to this inquiry is through neuroimaging of individuals with microdeletion syndromes that manifest in specific neuropsychiatric phenotypes. Both Velocardiofacial syndrome (VCFS) and Williams syndrome (WS)...

Chromosomal deletion and rearrangement in Streptomyces glaucescens.

The Streptomyces glaucescens genome frequently undergoes gross genomic rearrangement events which result in the deletion of extremely large segments of chromosomal DNA. The structure and origin of the DNA forming the novel junctions arising from five of these deletion events are described. Only one junction proved to be the result of a relatively simple event; the remainder were more complex, w...

Chromosomal deletion at 22q11.2 and Parkinson's disease

See Articles page 585 taken in account when OCT data are interpretated. Does this clinically silent demyelination mirror disease activity, and thus correspond with parameters such as brain and spinal cord atrophy and expanded disability severity score (EDSS), or is it also responsible for OCT results that do not correlate with the clinical course? The assumption that clinically silent demyelina...