Copy number variation and parental consanguinity in newborn of high altitude with major congenital anomalies in Perú

Introduction. Copy number variation is a genomic change that causes congenital abnormalities in newborns. Purpose.  To show copy number variants and regions of homozygosity in neonates with malformative syndrome or one congenital anomaly major associated to facial dysmorphia or hypotonia. M...

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Detalles Bibliográficos
Autores principales: Abarca Barriga, Hugo Hernán, Chavesta Velásquez, Felix, Barletta Carrillo, Claudia, Paucarmayta Tacuri, Abel, Bazán Hurtado, Margaret, Vásquez Loarte, Tania, Ordoñez Rondón, Luis, Ordoñez Linares, Marco, Rondón Abuhadba, Evelina Andrea
Formato: Artículo revista
Lenguaje:Español
Publicado: Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2022
Materias:
microarray analysis
DNA copy number variation
infant, newborn
congenital abnormalities
consanguinity
análisis por micromatrices
variaciones en el número de copias de ADN
recién nacido
anormalías congénitas
consanguinidad
análise em Microsséries
Variações do número de cópias de DNA
recém-nascido
anormalidades congênitas
consanguinidade
Acceso en línea:https://revistas.unc.edu.ar/index.php/med/article/view/34538
Aporte de:
Revista de la Facultad de Ciencias Médicas de Córdoba de Universidad Nacional de Córdoba
Descripción
Sumario:Introduction. Copy number variation is a genomic change that causes congenital abnormalities in newborns. Purpose.  To show copy number variants and regions of homozygosity in neonates with malformative syndrome or one congenital anomaly major associated to facial dysmorphia or hypotonia. Methodology. Performed chromosomal microarray analysis (CGH/SNP) to 60 neonates with congenital anomalies born in Hospital Antonio Lorena and Hospital Regional Cusco. Results. 70% of the newborns had an abnormal test; 48,3% patients had with regions of homozygosity above to 0,5% (endogamy coefficient up to 1/64). Pathogenic or likely pathogenic copy number variations with or without region of homozygosity were present in 14,2% newborns with congenital abnormalities. We founded five patients with uncertain pathogenic copy number variations that have not been described previously and might correlate with phenotype. Conclusion. We founded a similar frequency of CNV in newborns with congenital abnormalities compared to previous reports. Nonetheless, parental consanguinity was increased compared to other countries of South America.  This is the first report in Peru that showed to CMA as a useful diagnostic method in patients with congenital abnormalities and is pioneer in relation to other countries in Latinoamerica.

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