SHORT REPORT

22q11 deletion: a multisystem disorder requiring multidisciplinary input

K L Greenhalgh¹, I A Aligianis², G Bromilow³, H Cox⁴, C Hill⁵, Y Stait⁶, B J Leech¹, P W Lunt¹ and M Ellis⁷

¹ Department of Clinical Genetics, Level B, St Michael’s Hospital, Southwell Street, Bristol BS2 8EG, UK
² Department of Clinical Genetics, Birmingham Women’s Hospital, Edgbaston B15 2TG, UK
³ Department of Clinical Genetics, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK
⁴ Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK
⁵ Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK
⁶ Clinical Genetics Service, Pendragon House, Gloweth, Truro, Cornwall TR1 3LS
⁷ Department of Community Paediatrics Westgate House, Southmead Hospital, Bristol BS10 5NB, UK

Correspondence to:
Correspondence to:
Dr K L Greenhalgh, Department of Clinical Genetics, Level B, St Michael’s Hospital, Southwell Street, Bristol BS2 8EG, UK;
Lynn.Greenhalgh{at}ubht.swest.nhs.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.

Keywords: chromosome 22q11; recommendations; community paediatrics; clinical genetics

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Bassett, A S, Chow, E W C, Husted, J, Hodgkinson, K A, Oechslin, E, Harris, L, Silversides, C (2009). Premature death in adults with 22q11.2 deletion syndrome. J. Med. Genet. 46: 324-330 [Abstract] [Full Text]  
• Erdogan, F, Larsen, L A, Zhang, L, Tumer, Z, Tommerup, N, Chen, W, Jacobsen, J R, Schubert, M, Jurkatis, J, Tzschach, A, Ropers, H-H, Ullmann, R (2008). High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J. Med. Genet. 45: 704-709 [Abstract] [Full Text]  

eLetters:

Read all eLetters

Thyroid disease is part of the 22q11 deletion Syndrome

Joanna M Preece, et al.

ADC Online, 11 Jun 2003 [Full text]