De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

Abstract Background Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, d...

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Bibliographic Details
Main Authors: Abul Kalam Azad, Lindsay Yanakakis, Samantha Issleb, Jessica Turina, Kelli Drabik, Christina Bonner, Eve Simi, Andrew Wagner, Morry Fiddler, Rizwan Naeem
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Molecular Cytogenetics
Subjects:
Chromosome 21
Partial monosomy
Mosaicism
Superior vena cava duplication
Online Access:http://link.springer.com/article/10.1186/s13039-020-00513-2

Internet

http://link.springer.com/article/10.1186/s13039-020-00513-2

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