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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| 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 |