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

Autor(es):Mostrar menos -

Monteiro, Fabola P. ^[1] ; Vieira, Tarsis P. ^[1] ; Sgardioli, Ilaria C. ^[1] ; Molck, Miriam C. ^[1] ; Damiano, Ana Paula ^[2] ; Souza, Josiane ^[3] ; Monlleo, Isabella L. ^{[4, 5]} ; Fontes, Marshall I. B. ^[4] ; Fett-Conte, Agnes C. ^[6] ; Felix, Temis M. ^[7] ; Leal, Gabriela F. ^[8] ; Ribeiro, Erlane M. ^[9] ; Banzato, Claudio E. M. ^[10] ; Dantas, Clarissa de R. ^[10] ; Lopes-Cendes, Iscia ^[1] ; Gil-da-Silva-Lopes, Vera Lucia ^[1]

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Dept Med Genet, BR-13083887 Campinas, SP - Brazil

^[2] Univ Estadual Campinas, Dept Neonatol & Pediat Cardiol, Hosp Clin, BR-13083887 Campinas, SP - Brazil

^[3] Pontificia Univ Catolica Parana PUCPR, Assistance Ctr Cleft Lip & Palate CAIF, Curitiba, Parana - Brazil

^[4] State Univ Alagoas UNCISAL, Med Genet Sect, Maceio, AL - Brazil

^[5] Fed Univ Alagoas UFAL, Clin Genet Serv, Maceio, AL - Brazil

^[6] FAMERP FUNFARME, Sch Med, Dept Mol Biol, Sao Jose Do Rio Preto, SP - Brazil

^[7] Hosp Clin Porto Alegre, Med Genet Serv, Porto Alegre, RS - Brazil

^[8] Prof Fernando Figueira Integral Med Inst, Facial Defects Treatment Ctr, Recife, PE - Brazil

^[9] Hosp Infantil Albert Sabin, Fortaleza, Ceara - Brazil

^[10] Univ Campinas UNICAMP, Fac Med Sci, Dept Med Psychol & Psychiat, Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: EUROPEAN JOURNAL OF PEDIATRICS; v. 172, n. 7, p. 927-945, JUL 2013.
• Citações Web of Science: 34

Resumo

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. (AU)

• Processo FAPESP: 08/50421-4 - Estudo multicêntrico para validação de base de dados e de estratégia para investigação diagnóstica de fendas orofaciais no Brasil
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Regular