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Presenting phenotype in 100 children with the 22q11 deletion syndrome

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The aim of this study was to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and to describe common clinical features that could serve as guidelines in the clinical diagnostic process preceding genetic testing. A hospital-based study of 100 consecutive children and adolescents with 22q11 deletion was initiated. The patients were divided into two groups according to age at diagnosis: before or after 2 years of age. Clinical features were grouped into a core set of eight features: cardiac defects, non-visible/hypoplastic thymus or infection problems, hypocalcaemia, feeding difficulties, cleft palate/speech-language impairment, developmental delay/learning difficulties, characteristic dysmorphic features and other malformations and deformities. The median age at diagnosis was 6.7 years. Of all patients, 26% were diagnosed in infancy and 92% had a congenital cardiac defect, whereas 54% of those diagnosed later had a cardiac defect. A cleft palate was present in 25 cases and 44 had some other malformation or deformity. All presented with a combination of many of the core features. Of those diagnosed after 2 years of age, the majority presented with speech-language impairment, developmental delay or learning difficulties and recurrent infections. Characteristic mild dysmorphic features were noticed in all children. Conclusion: In spite of variable clinical expression, children with 22q11 deletion share a number of major features and have a characteristic phenotype. A high proportion have no cardiac defect and hence a risk of diagnostic delay. Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay.

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Fig. 1
Fig. 2


22q11DS :

22q11 deletion syndrome


fluorescent in-situ hybridisation


immune thrombocytopoenia


velocardiofacial syndrome


ventricular septal defect


  1. Adachi M, Tachibana K, Maasuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahasi H, Suwa S (1998) Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur J Pediatr 157: 34–38

    Article  CAS  PubMed  Google Scholar 

  2. Devriendt K, Fryns JP, Mortier G (1998) The annual incidence of DiGeorge/velocardiofacial syndrome (letter). J Med Genet 35: 789

    CAS  Google Scholar 

  3. Ghariani S, Dahan K, Saint-Martin C, Kadhim H, Morsomme F, Moniotte S, Verellen-Dumoulin GS (2002) Polymicrogyria in chromosome 22q11 deletion syndrome. Eur J Paediatr Neurol 6: 73–77

    Article  PubMed  Google Scholar 

  4. Johannesson T, Holmqvist D, Martinsson T, Wahlström J (1991) An improved technique for chromosome preparations from human lymphocytes. Hereditas 115: 295–297

    CAS  PubMed  Google Scholar 

  5. Kapur P, Caty MG (1998) Pediatric hernias and hydroceles. Pediatr Clin North Am 45: 773–789

    CAS  PubMed  Google Scholar 

  6. McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10: 11–24

    CAS  PubMed  Google Scholar 

  7. McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E (2003) Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 112: 472–476

    Article  Google Scholar 

  8. Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH (1997) Skeletal anomalies and deformities in patients with deletions of 22q11. Am J Med Genet 72: 210–215

    Article  CAS  PubMed  Google Scholar 

  9. Óskarsdottir S, Vujic M, Fasth A (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 89: 148–151

    Google Scholar 

  10. Persson C, Lohmander A, Jönsson R, Óskarsdóttir S, Söderpalm E (2003) A prospective cross-sectional study of speech in patients with the 22q11 deletion syndrome. J Commun Disord 36: 13–37

    Article  PubMed  Google Scholar 

  11. Pillai SB, Besner GE (1998) Pediatric testicular problems. Pediatr Clin North Am 45: 813–830

    CAS  PubMed  Google Scholar 

  12. Rommel N, Vantrappen G, Swillen A, Devriendt K, Feenstra L, Fryns JP (1999) Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns 10: 71–78

    CAS  PubMed  Google Scholar 

  13. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ et al (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34: 798–804

    CAS  PubMed  Google Scholar 

  14. Swillen A, Vogels A, Devriendt K, Fryns JP (2000) Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet 97: 128–135

    Article  CAS  PubMed  Google Scholar 

  15. Taylor SC, Morris G, Wilson D, Davies SJ, Gregory JW (2003) Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child 88: 520–522

    Article  CAS  PubMed  Google Scholar 

  16. Vantrappen G, Devriendt K, Swillen A, Rommel N, Vogels A, Eyskens B, Gewillig M, Feenstra L, Fryns JP (1999) Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet Couns 10: 3–9

    CAS  PubMed  Google Scholar 

  17. Wu HY, Rusnack SL, Bellah RD, Platcher N, McDonald-McGinn DM, Zackai EH, Canning DA (2002) Genitourinary malformations in chromosome 22q11.2 deletion. J Urol 168: 2564–2565

    Article  CAS  PubMed  Google Scholar 

  18. Ymagishi H (2002) The 22q11.2 deletion syndrome. Keio J Med 51: 77–88

    PubMed  Google Scholar 

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This work was supported by grants from the Göteborg Medical Society, Göteborg University, The National Board of Health and Welfare and the Western Götaland Region. We are grateful to all patients and parents who participated in this study. Special thanks are given to Viola Reinhardt for highly valued assistance.

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Correspondence to Sólveig Óskarsdóttir.

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Óskarsdóttir, S., Persson, C., Eriksson, B.O. et al. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 164, 146–153 (2005).

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