Fragile X testing in a diagnostic cytogenetics laboratory.
Chromosome results obtained from 1012 patients referred with developmental delay without known cause within the three years 1985 to 1987 are reported. G banding analysis and assessment of 70 cells for fragile X gave abnormal results in 84 cases: fragile X in 31 patients and other abnormalities in 53 patients. A further 16 sibs expressing the fragile X were detected in family studies originating from the 31 index cases. This yield justifies continuation of procedures which detect both fragile X and subtle chromosomal abnormalities in these patients.
Voullaire
L E
LE
Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.
Webb
G C
GC
Leversha
M
M
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*