Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited deletions, with a marked excess of maternally inherited deletions (maternal 61, paternal 18). Eight percent of the patients had died, over half of these within a month of birth and the majority within 6 months. All but one of the deaths were the result of congenital heart disease. Clinically significant immunological problems were very uncommon. Nine percent of patients had cleft palate and 32% had velopharyngeal insufficiency, 60% of patients were hypocalcaemic, 75% of patients had cardiac problems, and 36% of patients who had abdominal ultrasound had a renal abnormality. Sixty-two percent of surviving patients were developmentally normal or had only mild learning problems. The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters.
Ryan
A K
AK
Department of Human Genetics, University of Newcastle upon Tyne, UK.
Goodship
J A
JA
Wilson
D I
DI
Philip
N
N
Levy
A
A
Seidel
H
H
Schuffenhauer
S
S
Oechsler
H
H
Belohradsky
B
B
Prieur
M
M
Aurias
A
A
Raymond
F L
FL
Clayton-Smith
J
J
Hatchwell
E
E
McKeown
C
C
Beemer
F A
FA
Dallapiccola
B
B
Novelli
G
G
Hurst
J A
JA
Ignatius
J
J
Green
A J
AJ
Winter
R M
RM
Brueton
L
L
Brøndum-Nielsen
K
K
Scambler
P J
PJ
D000293:Adolescent; D000328:Adult; D001519:Behavior; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology / Q000523:psychology; D005060:Europe; D005260:Female; D006309:Hearing; D006331:Heart Diseases / Q000151:congenital; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009056:Mouth Abnormalities; D009422:Nervous System Diseases; D010280:Parathyroid Glands / Q000503:physiopathology; D010641:Phenotype; D014564:Urogenital Abnormalities