[Copy number variation and parental consanguinity elevated in newborns of high altitude with major congenital anomalies in Peru].

ABSTRACT:

Introduction

Congenital abnormalities could be caused by copy number variation or homozygous variants inherited of parental consanguineous. Purpose.

Objetive

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

SUBMITTER: Abarca Barriga HH 

PROVIDER: S-EPMC9426322 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature