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A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism
We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent d...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4781737/ https://www.ncbi.nlm.nih.gov/pubmed/26958068 http://dx.doi.org/10.3345/kjp.2016.59.2.91 |