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Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child
We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with f...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Iuliu Hatieganu University of Medicine and Pharmacy
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683837/ https://www.ncbi.nlm.nih.gov/pubmed/29151796 http://dx.doi.org/10.15386/cjmed-763 |