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

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

Abstract Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions, duplications, and structural rearrang...

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Bibliographic Details
Main Authors: Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson
Format: Article
Language:English
Published: BMC 2022-08-01
Series:Molecular Cytogenetics
Online Access:https://doi.org/10.1186/s13039-022-00610-4

Internet

https://doi.org/10.1186/s13039-022-00610-4

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