Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

Fragile X syndrome and deletions in FMR1

Fragile X syndrome and deletions in FMR1: New case and review of the literature

✍ Hammond, Lyn S.; Macias, Michelle M.; Tarleton, Jack C.; Pai, G. Shashidhar 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB 👁 1 views

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 A