European Journal of Pediatrics

, Volume 172, Issue 7, pp 927–945 | Cite as

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature

  • Fabíola P. Monteiro
  • Társis P. Vieira
  • Ilária C. Sgardioli
  • Miriam C. Molck
  • Ana Paula Damiano
  • Josiane Souza
  • Isabella L. Monlleó
  • Marshall I. B. Fontes
  • Agnes C. Fett-Conte
  • Têmis M. Félix
  • Gabriela F. Leal
  • Erlane M.Ribeiro
  • Claudio E. M. Banzato
  • Clarissa de R. Dantas
  • Iscia Lopes-Cendes
  • Vera Lúcia Gil-da-Silva-LopesEmail author
Original Article


The 22q11.2 deletion is the most frequent interstitial deletion in humans and presents a wide phenotypic spectrum, with over 180 clinical manifestations described. Distinct studies have detected frequencies of the deletion ranging from 0 % to 75 %, depending on the studied population and selection criteria adopted. Due to the lack of consensus in this matter, several studies have been conducted aiming to define which patients would be eligible for screening; however, the issue is still up for debate. In order to contribute to the delineation of possible clinical and dysmorphologic guidelines to optimize decision making in the clinical setting, 194 individuals with variable features of the 22q11.2 deletion syndromes (22q11.2DS) were evaluated. Group I, clinical suspicion of 22q11.2DS with palatal anomalies; Group II, clinical suspicion without palatal anomalies; Group III, cardiac malformations associated with the 22q11.2DS; and Group IV, juvenile-onset schizophrenia. Multiplex ligation-dependent probe amplification was used for screening the 22q11.2 deletion, which was detected in 45 patients (23.2 %), distributed as such: Group I, 35/101 (34.7 %); Group II, 4/18 (22.2 %); Group III, 6/52 (11.5 %); and Group IV, 0/23 (0 %). Clinical data were analyzed by frequency distribution and statistically. Based on the present results and on the review of the literature, we propose a set of guidelines for screening patients with distinct manifestations of the 22q11.2DS in order to maximize resources. In addition, we report the dysmorphic features which we found to be statistically correlated with the presence of the 22q11.2DS.


Cleft palate Congenital cardiopathy Juvenile-onset schizophrenia Clinical guidelines Dysmorphology Personalized medicine Cost-effectiveness 



This study was supported by FAPESP–Fundação de Amparo à Pesquisa do Estado de São Paulo (2008/50421-4 and 2009/ 08756–1) and CNPq-Conselho Nacional de Desenvolvimento Científico e Tecnológico (149600/2010-0). VLGSL is supported by CNPq (304455/2012-1).

The authors are deeply indebted to the families for their cooperation.

We like to thank the following clinical geneticists for participating in the evaluation of patients and also sending clinical data for the study: Dr. Antonia P. Marques-de-Faria, Dr. Carlos E. Steiner, Dr. Carolina A. Moreno, Dr. Chong AE Kim, Dr. Eny M. G. Bertollo, Dr. Rômulo Moumbach, Dr. Ruy Pires de Oliveira Sobrinho, and Dr. Pricila Bernardi.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Fabíola P. Monteiro
    • 1
  • Társis P. Vieira
    • 1
  • Ilária C. Sgardioli
    • 1
  • Miriam C. Molck
    • 1
  • Ana Paula Damiano
    • 2
  • Josiane Souza
    • 3
  • Isabella L. Monlleó
    • 4
    • 5
  • Marshall I. B. Fontes
    • 4
  • Agnes C. Fett-Conte
    • 6
  • Têmis M. Félix
    • 7
  • Gabriela F. Leal
    • 8
  • Erlane M.Ribeiro
    • 9
  • Claudio E. M. Banzato
    • 10
  • Clarissa de R. Dantas
    • 10
  • Iscia Lopes-Cendes
    • 1
  • Vera Lúcia Gil-da-Silva-Lopes
    • 1
    Email author
  1. 1.Department of Medical GeneticsUniversity of CampinasCampinasBrazil
  2. 2.Department of Neonatology and Pediatric Cardiology, Hospital das ClínicasUniversity of CampinasCampinasBrazil
  3. 3.Assistance Center for Cleft Lip and Palate (CAIF)Pontificia Universidade Catolica do Paraná (PUCPR)ParanáBrazil
  4. 4.Medical Genetics SectorState University of Alagoas (UNCISAL)MaceióBrazil
  5. 5.Clinical Genetics ServiceFederal University of Alagoas (UFAL)MaceióBrazil
  6. 6.Department of Molecular Biology, Medical School – FAMERP/FUNFARMESão José do Rio PretoBrazil
  7. 7.Medical Genetics ServiceHospital de Clinicas de Porto AlegrePorto AlegreBrazil
  8. 8.Facial Defects Treatment CenterProfessor Fernando Figueira Integral Medicine InstituteRecifeBrazil
  9. 9.Hospital Infantil Albert SabinCearáBrazil
  10. 10.Department of Medical Psychology and Psychiatry, Faculty of Medical SciencesUniversity of Campinas–UNICAMPCampinasBrazil

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