Towards earlier diagnosis of 22q11 deletions.
Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.
Tobias
E S
ES
Yorkhill NHS Trust, Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, UK.
Morrison
N
N
Whiteford
M L
ML
Tolmie
J L
JL
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D004062:DiGeorge Syndrome / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013771:Tetralogy of Fallot / Q000235:genetics; D013997:Time Factors