PubMed:1302032 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/1302032","sourcedb":"PubMed","sourceid":"1302032","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/1302032","text":"Fragile X syndrome without CCG amplification has an FMR1 deletion.\nWe 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 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