An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.
Tarleton
J
J
Molecular Genetics and DNA Diagnostic Laboratory, Greenwood Genetic Center, SC 29646.
Richie
R
R
Schwartz
C
C
Rao
K
K
Aylsworth
A S
AS
Lachiewicz
A
A
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
D015342:DNA Probes; D012333:RNA, Messenger