RT Journal Article
SR Electronic
T1 22q11 deletion: a multisystem disorder requiring multidisciplinary input
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 523
OP 524
DO 10.1136/adc.88.6.523
VO 88
IS 6
A1 K L Greenhalgh
A1 I A Aligianis
A1 G Bromilow
A1 H Cox
A1 C Hill
A1 Y Stait
A1 B J Leech
A1 P W Lunt
A1 M Ellis
YR 2003
UL http://adc.bmj.com/content/88/6/523.abstract
AB Aim: 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.