Consulta: creatorFacets:"Fett-Conte,Agnes Cristina"
Registros recuperados: 2
Data/hora: 09/06/2024 13:23:06

Birth defects in Brazil: Outcomes of a population-based study
Provedor de dados: Genetics and Molecular Biology
Autores: Oliveira-Brancati,Camila Ive Ferreira; Ferrarese,Valéria Cristina Carvalho; Costa,Antonio Richieri; Fett-Conte,Agnes Cristina.
Abstract Birth defects (BDs) are functional and structural alterations in embryonic or fetal development. With an incidence of approximately 3-5%, BDs are a leading cause of infant mortality and lifelong disability. A population-based prospective case-control study was conducted for one year with 5204 infants, between March 1st, 2011 and February 29th, 2012 in the city of São José do Rio Preto, State of São Paulo, Brazil. The incidence of BDs was 3.2% [95% confidence interval (95%CI): 2.8-3.8%]. The most common congenital anomalies were heart diseases in isolation (11.2%; 95%CI: 7.3-16.9%) followed by Down syndrome (9.5%; 95%CI: 5.9-14.8%), neural tube defects (8.9%; 95%CI: 5.4-14.1), urinary tract anomalies (7.7%; 95%CI: 4.4-12.7%), and polydactyly (7.0%;...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Malformation; Congenital anomaly; Fetal development; Genetic counseling; Public health.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100102

Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies
Provedor de dados: Genetics and Molecular Biology
Autores: Sandrin-Garcia,Paula; Richieri-Costa,Antonio; Tajara,Eloiza Helena; Carvalho-Salles,Andréa Borduchi; Fett-Conte,Agnes Cristina.
The velocardiofacial syndrome (VCFS), a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH) with the N25 (D22S75; 22q11.2) probe revealed deletions in ten individuals (62%). Therefore, even in the absence of cardiac anomalies testing for the 22q11.2 microdeletions in individuals showing other clinical features of this syndrome is recommended.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Velocardiofacial syndrome; 22q11.2 deletion.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100006