22q11 deletion: a multisystem disorder requiring multidisciplinary input.
OBJECTIVE
To draw up recommendations for the investigation and management of children with a microdeletion of chromosome 22q11.


METHODS
A retrospective review of case notes from patients with a chromosome 22q11 microdeletion identified by cytogenetics laboratories of the south and west of Britain over a four year period.


RESULTS
A total of 210 cases were identified. Age at diagnosis was 0-1 years (34%), 1-4 (17%), 5-17 (35%), and 18 years or more (13%). School age children were less likely to be investigated than infants: echocardiography in school age 86% v in infancy 97%, serum calcium 66% v 89%, renal ultrasound scan 38% v 42%, lymphocyte count 26% v 68%, parental karyotype 78% v 88%. The yield of investigations remained high throughout all age groups with 42% of school age children shown to have hypocalcaemia and 25% abnormal findings on renal ultrasound.


CONCLUSIONS
22q11 microdeletion is a multisystem disorder requiring a set of core investigations at diagnosis. We recommend an echocardiogram, renal ultrasound scan, lymphocyte count and function, serum calcium, and parental karyotype as a minimum. Genetic counselling and community paediatric input is helpful for most families.
Greenhalgh
K L
KL
Department of Clinical Genetics, Level B, St Michael's Hospital, Southwell Street, Bristol BS2 8EG, UK. Lynn.Greenhalgh@ubht.swest.nhs.uk
Aligianis
I A
IA
Bromilow
G
G
Cox
H
H
Hill
C
C
Stait
Y
Y
Leech
B J
BJ
Lunt
P W
PW
Ellis
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D010348:Patient Care Team; D012189:Retrospective Studies; D013577:Syndrome