Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report

Abstract Background Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition...

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Bibliographic Details
Main Authors: Elizabeth R. Kerr, Gary M. Stuhlmiller, George C. Maha, Mark A. Ladd, Fady M. Mikhail, Ruth P. Koester, Anna C. E. Hurst
Format: Article
Language:English
Published: BMC 2018-12-01
Series:Molecular Cytogenetics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s13039-018-0411-3