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

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Abstract

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.

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Acknowledgments

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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Authors and Affiliations

  1. Department of Medical Genetics, University of Campinas, Tessália Vieira de Camargo Street, 126 - CEP, 13083-887, Campinas, SP, Brazil

    Fabíola P. Monteiro, Társis P. Vieira, Ilária C. Sgardioli, Miriam C. Molck, Iscia Lopes-Cendes & Vera Lúcia Gil-da-Silva-Lopes

  2. Department of Neonatology and Pediatric Cardiology, Hospital das Clínicas, University of Campinas, Campinas, SP, Brazil

    Ana Paula Damiano

  3. Assistance Center for Cleft Lip and Palate (CAIF), Pontificia Universidade Catolica do Paraná (PUCPR), Paraná, Brazil

    Josiane Souza

  4. Medical Genetics Sector, State University of Alagoas (UNCISAL), Maceió, AL, Brazil

    Isabella L. Monlleó & Marshall I. B. Fontes

  5. Clinical Genetics Service, Federal University of Alagoas (UFAL), Maceió, AL, Brazil

    Isabella L. Monlleó

  6. Department of Molecular Biology, Medical School – FAMERP/FUNFARME, São José do Rio Preto, SP, Brazil

    Agnes C. Fett-Conte

  7. Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil

    Têmis M. Félix

  8. Facial Defects Treatment Center, Professor Fernando Figueira Integral Medicine Institute, Recife, Brazil

    Gabriela F. Leal

  9. Hospital Infantil Albert Sabin, Fortaleza, Ceará, Brazil

    Erlane M.Ribeiro

  10. Department of Medical Psychology and Psychiatry, Faculty of Medical Sciences, University of Campinas–UNICAMP, Campinas, SP, Brazil

    Claudio E. M. Banzato & Clarissa de R. Dantas

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  1. Fabíola P. Monteiro
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  2. Társis P. Vieira
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  3. Ilária C. Sgardioli
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  4. Miriam C. Molck
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  5. Ana Paula Damiano
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  7. Isabella L. Monlleó
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  8. Marshall I. B. Fontes
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  9. Agnes C. Fett-Conte
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  10. Têmis M. Félix
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  11. Gabriela F. Leal
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Correspondence to Vera Lúcia Gil-da-Silva-Lopes.

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Monteiro, F.P., Vieira, T.P., Sgardioli, I.C. et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr 172, 927–945 (2013). https://doi.org/10.1007/s00431-013-1964-0

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