Whole genome sequencing reveals diagnosis in a 12-month-old child with elevated creatinine kinase, pseudohypertriglyceridemia, and a complex phenotype.

Abstract excerpt

INTRODUCTION: Contiguous gene deletion syndromes (CGDSs) can be inherited or the result of microdeletions (eg, resulting from crossing-over errors) in gene-rich chromosome regions. Molecular mechanisms leading to chromosome loss in hotspot areas, such as errors in chromosome crossing-over events, can explain phenotypic presentations in CGDSs. Accurate interpretation of laboratory results in the context of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital Bone Marrow Failure Syndromes
• Share to Infant