Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect

• Published in: American journal of medical genetics Vol. 51; no. 4; p. 507
• Main Authors: Shapiro, L R, Simensen, R J, Wilmot, P L, Fisch, G S, Vibert, B K, Fenwick, R G, Tarleton, J, Phelan, M C
• Format: Journal Article
• Language: English
• Published: United States 15.07.1994
• Subjects: Adolescent; Adult; Aneuploidy; Dinucleoside Phosphates - metabolism; DNA - metabolism; Dosage Compensation, Genetic; Female; Fragile X Syndrome - complications; Fragile X Syndrome - genetics; Fragile X Syndrome - metabolism; Gene Dosage; Humans; Intelligence; Mosaicism; Mutation; Repetitive Sequences, Nucleic Acid; Turner Syndrome - complications

The full FMR-1 mutation is known to cause the fragile X syndrome [Fra(X)], but variable expression in females, including normal to deficient intellect, may be related to random X-inactivation (lyonization). We have evaluated 2 mosaic 45,X/46,XX females who are cytogenetically fra(X) positive, have a...