title: An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.
authors.affiliation: Molecular Genetics and DNA Diagnostic Laboratory, Greenwood Genetic Center, SC 29646.
authors.forename: J
authors.initials: J
authors.lastname: Tarleton
authors.forename: R
authors.initials: R
authors.lastname: Richie
authors.forename: C
authors.initials: C
authors.lastname: Schwartz
authors.forename: K
authors.initials: K
authors.lastname: Rao
authors.forename: A S
authors.initials: AS
authors.lastname: Aylsworth
authors.forename: A
authors.initials: A
authors.lastname: Lachiewicz
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002874:Chromosome Mapping; D015342:DNA Probes; D005091:Exons; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D012333:RNA, Messenger / Q000096:biosynthesis; D012091:Repetitive Sequences, Nucleic Acid; D017384:Sequence Deletion
chemical_list: D015342:DNA Probes; D012333:RNA, Messenger