TY - JOUR
T1 - 22q11 deletion: a multisystem disorder requiring multidisciplinary input
AU - Greenhalgh, KL
AU - Aligianis, Irene
AU - Bromilow, G
AU - Cox, H
AU - Hill, C
AU - Stait, Y
AU - Leech, BJ
AU - Lunt, PW
AU - Ellis, M
PY - 2003/6/1
Y1 - 2003/6/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=0038359152&partnerID=8YFLogxK
U2 - 10.1136/adc.88.6.523
DO - 10.1136/adc.88.6.523
M3 - Article
C2 - 12765922
SN - 1468-2044
VL - 88
SP - 523
EP - 524
JO - Archives of Disease in Childhood
JF - Archives of Disease in Childhood
IS - 6
ER -