Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

Abstract Background Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis. Case presentation We described two families with copy number gain in which FISH analysis with the specific subtelome...

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Bibliographic Details
Main Authors: Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalprà, Marialuisa Lavitrano, Gaia Roversi
Format: Article
Language:English
Published: BMC 2018-09-01
Series:Molecular Cytogenetics
Subjects:
Copy number variations
Chromosome 13 p arm
Unbalanced translocation
FISH
Array-CGH
Online Access:http://link.springer.com/article/10.1186/s13039-018-0400-6

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