Down's syndrome and fragile-X syndrome in a single patient
| Autor: | R. A. Collacott, I. D. Young, D. P. Duckett, D. Mathews, J. S. Warrington |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Down syndrome Aneuploidy Arts and Humanities (miscellaneous) medicine Humans Sex Chromosome Aberrations Genetics S syndrome business.industry Rehabilitation Karyotype Chromosome Fragility medicine.disease Pedigree Single patient Fragile X syndrome Psychiatry and Mental health Phenotype Neurology Fragile X Syndrome Female Neurology (clinical) Down Syndrome business Trisomy |
| Zdroj: | Journal of Intellectual Disability Research. 34:81-86 |
| ISSN: | 0964-2633 |
| DOI: | 10.1111/j.1365-2788.1990.tb01518.x |
| Popis: | A profoundly mentally handicapped patient is described with the karyotype 47,X, fra (X) (q27), + 21. Her phenotype demonstrates features of both Down's Syndrome and fragilc-X syndrome. The authors believe only one other similar case has been described. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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