Ontology highlight
ABSTRACT:
SUBMITTER: Capra AP
PROVIDER: S-EPMC9957527 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Capra Anna Paola AP La Rosa Maria Angela MA Briguori Sara S Civa Rosa R Passarelli Chiara C Agolini Emanuele E Novelli Antonio A Briuglia Silvana S
Genes 20230214 2
Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to biallelic sequence variants in a gene associated with an autosomal recessive disorder. We diagnosed the simultaneous presence of these conditions, which co-occurred by chance, in three unrelated patients ...[more]