A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

Abstract Background Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects. Case presen...

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Bibliographic Details
Main Authors: Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli
Format: Article
Language:English
Published: BMC 2019-06-01
Series:Molecular Cytogenetics
Subjects:
Complex chromosomal rearrangements
RUNX1T1
1p22.1p21.3 duplication
8q21.3q22.1 deletion
Online Access:http://link.springer.com/article/10.1186/s13039-019-0440-6

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http://link.springer.com/article/10.1186/s13039-019-0440-6

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