Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

Journal article

We have recently shown that the expression of the FRAXE fragile site in Xq28 is associated with the expansion of a GCC trinucleotide repeat. In the families studied, FRAXE expression is also associated with mild mental handicap. Here we present data on families that previously had been diagnosed as having the fragile X syndrome but that later were found to be negative for trinucleotide repeat expansion at the FRAXA locus. In these families we demonstrate the presence of a GCC trinucleotide re...

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Authors: Knight, S; Voelckel, M; Hirst, M; Flannery, A; Moncla, A

• Journal: American journal of human genetics
• Volume: 55
• Issue: 1
• Pages: 81-86
• Publication date: 1994-07-01
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Pedigree; Humans; DNA; Phenotype; Dinucleoside Phosphates; Female; Male; Fragile X Syndrome; Restriction Mapping; Down Syndrome; Repetitive Sequences, Nucleic Acid