Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

HIGHLIGHTS

• who: Dong Li from the (UNIVERSITY) have published the paper: Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism, in the Journal: (JOURNAL)
• what: The authors propose that the complexity of the patient `s genomic rearrangements with a high number of breakpoints causes dysregulation of gene expression by three-dimensional chromatin interactions or topologically associating domains leading to growth failure and craniosynostosis. The authors propose that more advanced sequencing methodologies are an important tool for understanding the phenotypes of complex chromosomal rearrangements.

 

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