A prospective cytogenetic study of 36 cases of DiGeorge syndrome.
Cytogenetic analysis was carried out in a prospective series of 36 children with DiGeorge syndrome. High-resolution banding (> 850 bands/haploid set) was achieved in 30 cases. Monosomy 22q11.21-->q11.23 was found in 9 of these 30 cases. In each of these cases monosomy 22q11.21-->q11.23 resulted from an interstitial deletion and not from a translocation. No other chromosome abnormalities were seen.
Wilson
D I
DI
Division of Human Genetics, University of Newcastle upon Tyne, U.K.
Cross
I E
IE
Goodship
J A
JA
Brown
J
J
Scambler
P J
PJ
Bain
H H
HH
Taylor
J F
JF
Walsh
K
K
Bankier
A
A
Burn
J
J
D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009006:Monosomy; D011446:Prospective Studies