Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

Abstract Background Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. Case presentation We report a 10-month-old boy with short stature, minor anomalies and mild motor delay. The patient had a monosomy 21 and duplicati...

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Bibliographic Details
Main Authors: Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin, Yao-Shan Fan
Format: Article
Language:English
Published: BioMed Central 2018-08-01
Series:Molecular Cytogenetics
Subjects:
Chromosome 21
Partial monosomy
Deletion
Duplication
Partial uniparental disomy
Online Access:http://link.springer.com/article/10.1186/s13039-018-0390-4

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http://link.springer.com/article/10.1186/s13039-018-0390-4

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