Variantes en el número de copias y consanguinidad parental en neonatos de altura con anomalías congénitas en Perú

INTRODUCTION: Congenital abnormalities could be caused by copy number variation or homozygous variants inherited of parental consanguineous. 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 (n=42); 48,3% (n=29) 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% (n=6) 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.