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lüll 22q11 deletion: a multisystem disorder requiring multidisciplinary input Greenhalgh KL; Aligianis IA; Bromilow G; Cox H; Hill C; Stait Y; Leech BJ; Lunt PW; Ellis MArch Dis Child 2003[Jun]; 88 (6): 523-4AIM: 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.|*Chromosome Deletion[MESH]|Adolescent[MESH]|Adult[MESH]|Child[MESH]|Child, Preschool[MESH]|Chromosomes, Human, Pair 22/*genetics[MESH]|Developmental Disabilities/genetics[MESH]|Humans[MESH]|Hypocalcemia/genetics[MESH]|Infant[MESH]|Infant, Newborn[MESH]|Patient Care Team[MESH]|Retrospective Studies[MESH]|Syndrome[MESH] |