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...

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Detalles Bibliográficos
Autores principales: RACHISAN, ANDREEA LIANA, NICULAE, ALEXANDRU STEFAN, TINTEA, IOANA, POP, BIANCA, MILITARU, MARIELA, BIZO, AUREL, HRUSCA, ADRIAN
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iuliu Hatieganu University of Medicine and Pharmacy 2017
Materias:
Case Report
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

Internet

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

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