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

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 duplication of t...

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Detalles Bibliográficos
Autores principales: Su, Meng, Benke, Paul J., Bademci, Guney, Cengiz, Filiz Basak, Ouyang, Xiaomei, Peng, Jinghong, Casas, Carmen E., Tekin, Mustafa, Fan, Yao-Shan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090943/
https://www.ncbi.nlm.nih.gov/pubmed/30123325
http://dx.doi.org/10.1186/s13039-018-0390-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090943/
https://www.ncbi.nlm.nih.gov/pubmed/30123325
http://dx.doi.org/10.1186/s13039-018-0390-4

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