Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child
| Autor: | Adrian Hrusca, Mariela S. Militaru, Andreea Liana Răchişan, Aurel Bizo, Alexandru Stefan Niculae, Bianca Pop, Ioana Tintea |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Pediatrics Macroorchidism business.industry Prior diagnosis Robertsonian translocation autism Case Report General Medicine medicine.disease medicine.disease_cause Fragile X syndrome Autism spectrum disorder medicine Autism genetics Sibling fragile X syndrome Cognitive impairment Psychiatry business |
| Zdroj: | Clujul Medical |
| ISSN: | 2066-8872 1222-2119 |
| Popis: | 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 fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X syndrome, and the patient also has a prior diagnosis of autism spectrum disorder. We emphasize the challenges in his behavioral management and outline future directions for his management. |
| Databáze: | OpenAIRE |
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