Fragile X syndrome without CCG amplification has an FMR1 deletion

A. K. Gedeon, E. Baker, H. Robinson, M. W. Partington, B. Gross, A. Manca, B. Korn, A. Poustka, S. Yu, G. R. Sutherland, J. C. Mulley

Research output: Contribution to journalArticle

164 Citations (Scopus)

Abstract

We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment. The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences. This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1. We also found random X–inactivation in the mother of the patient who was shown to be a carrier of this deletion.

Original languageEnglish
Pages (from-to)341-344
Number of pages4
JournalNature Genetics
Volume1
Issue number5
DOIs
Publication statusPublished - 1 Jan 1992

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