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22q11 deletion: a multisystem disorder requiring multidisciplinary input
  1. K L Greenhalgh1,
  2. I A Aligianis2,
  3. G Bromilow3,
  4. H Cox4,
  5. C Hill5,
  6. Y Stait6,
  7. B J Leech1,
  8. P W Lunt1,
  9. M Ellis7
  1. 1Department of Clinical Genetics, Level B, St Michael’s Hospital, Southwell Street, Bristol BS2 8EG, UK
  2. 2Department of Clinical Genetics, Birmingham Women’s Hospital, Edgbaston B15 2TG, UK
  3. 3Department of Clinical Genetics, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK
  4. 4Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK
  5. 5Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK
  6. 6Clinical Genetics Service, Pendragon House, Gloweth, Truro, Cornwall TR1 3LS
  7. 7Department of Community Paediatrics Westgate House, Southmead Hospital, Bristol BS10 5NB, UK
  1. Correspondence to:
    Dr K L Greenhalgh, Department of Clinical Genetics, Level B, St Michael’s Hospital, Southwell Street, Bristol BS2 8EG, UK;


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.

  • chromosome 22q11
  • recommendations
  • community paediatrics
  • clinical genetics

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