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A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature
BACKGROUND: Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations and mosaicism of cells with r(6) and/or monosomy 6 due...
| 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/PMC6180451/ https://www.ncbi.nlm.nih.gov/pubmed/30305128 http://dx.doi.org/10.1186/s13052-018-0571-0 |