| Autor: |
Hammond, Lyn S., Macias, Michelle M., Tarleton, Jack C., Pai, G. Shashidhar |
| Zdroj: |
American Journal of Medical Genetics. Part A; 12 November 1997, Vol. 72 Issue: 4 p430-434, 5p |
| Abstrakt: |
The fragile X syndrome phenotype of mental retardation is almost always caused by abnormal CGG trinucleotide amplification within the FMR1 gene. Occasionally fragile X syndrome results from point mutations or deletions within or around the FMR1 locus. We have identified a mentally retarded African American male with typical fragile X phenotype and a 300400 base pair intragenic deletion near the CGG repeat segment, present in his peripheral blood lymphocytes with no apparent mosaicism. His mother, who is not retarded, has a full FMR1 CGG expansion mutation with 700900 repeats. A review of 23 published cases with FMR1 gene deletions shows full FMR1 mutation in the mother of only 1 other propositus, a male with FMR1 full mutation/premutation/deletion mosaicism of his cultured skin fibroblasts and peripheral blood lymphocytes. The various deletions within FMR1 and their clinical significance are reviewed. Am. J. Med. Genet. 72:430434, 1997. © 1997 Wiley-Liss, Inc. |
| Databáze: |
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