Projeto Doenças Genómicas e Rearranjos Cromossómicos: dificuldades diagnósticas e o impacto para a família

David, Dezso

http://hdl.handle.net/10400.18/6373

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Authors

David, Dezso

Abstract(s)

Structural chromosomal rearrangements (SCRs) have long been recognized as a major source of human developmental anomalies, including, among others, congenital anomalies, and neurodevelopmental, intellectual and cognitive disabilities. Indeed, causal relationship between congenital anomalies and related SCRs are expected to occur in up to 40% of the affected subjects. Approaches used for detection of such SCRs evolved significantly from classical and molecular cytogenetic technologies, such as FISH and microarrays, to whole genome sequencing (WGS) with high physical and low sequence coverage, also known as large-insert WGS.