[Encephalopathy related to X fragility: neither inactivation nor deletion of the distal fragment q28 to qter. Enzymatic and morphometric evidence].
Hypothesis on the nature of the fragile site Xq28 and its relations with the specific phenotype are discussed. The roles of a local inactivation (tested by G6-PD activity in 9 patients) or of a deletion Xq28 leads to qter (studied by morphometric evaluations on 2 patients and their heterozygotic mother) are not confirmed.
D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D004794:Enzyme Repression; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005600:Fragile X Syndrome / Q000201:enzymology / Q000235:genetics*; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*
D005954:Glucosephosphate Dehydrogenase
L'éncéphalopathie liée à la fragilité de l'X: ni inactivation, ni délétion du fragment distal q28 leads to qter. Arguments enzymatiques et morphométriques.