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

Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. We report a 10-month-old boy with short stature, minor anomalies and mild motor delay. The patient had a monosomy 21 and duplication of the 21q22.11q22.3 region on the...

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Bibliographic Details
Published in:Molecular cytogenetics 2018-08, Vol.11 (1), p.43-6, Article 43
Main Authors: Su, Meng, Benke, Paul J, Bademci, Guney, Cengiz, Filiz Basak, Ouyang, Xiaomei, Peng, Jinghong, Casas, Carmen E, Tekin, Mustafa, Fan, Yao-Shan
Format: Article
Language:English
Subjects:
Breakpoints
Care and treatment
Case Report
Case studies
Chromosome 21
Chromosome abnormalities
Chromosomes
Cytogenetics
Deletion
Deoxyribonucleic acid
Diagnosis
DNA
Duplication
Genetic testing
Genotype & phenotype
Genotyping
Imprinting
Low-birth-weight
Monosomy
Partial monosomy
Partial uniparental disomy
Phenotypes
Thermal cycling
Uniparental disomy
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Summary:Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. We report a 10-month-old boy with short stature, minor anomalies and mild motor delay. The patient had a monosomy 21 and duplication of the 21q22.11q22.3 region on the remaining derivative chromosome 21 which represents a partial 21q uniparental disomy of paternal origin, upd(21q22.11q22.3)pat. The abnormalities were characterized by karyotyping, FISH, chromosomal microarray, and genotyping. This is the first case showing a monosomy 21 compensated by upd(21q22.11q22.3) as a mechanism of genomic rescue. Because there is no strong evidence showing imprinting on chromosome 21, the uniparental disomy itself is not associated with abnormal phenotype but has reduced phenotype severity of monosomy 21. We reviewed the previously published cases with isolated 21q deletions and identified a common deletion of 5.7 Mb associated with low birth weight, length and head circumference in the 21q21.2 region.
ISSN:1755-8166
1755-8166
DOI:10.1186/s13039-018-0390-4