Importance of determining variations in the number of copies in newborns with autosomal aneuploidies
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ABSTRACT:
SUBMITTER: Abarca H
PROVIDER: S-EPMC8387016 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
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Importance of determining variations in the number of copies in newborns with autosomal aneuploidies
Abarca Hugo H Trubnykova Milana M Chavesta Félix F Ordóñez Marco M Rondón Evelina E
Biomedica : revista del Instituto Nacional de Salud 20210629 2
Introduction: Aneuploidies are frequent genetic disorders in clinical practice. However, little is known about other genetic variants that may influence the final phenotype. Objective: To determine the variations in the number of copies and regions with homozygosity greater than 0.5% or larger than 10 Mb in newborns with autosomal aneuploidies. Materials and methods: We performed a chromosomal microarray analysis on newborns with autosomal aneuploidies (n=7), trisomy 21 (n=5), and trisomy 18 (n= ...[more]
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