The fragile X chromosome in a large Indian kindred
| Autor: | Ronald D. Smart, J. Cornell, Peter Beighton, R. J. M. Gardner, L. M. Merckel |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Heterozygote Adolescent Intelligence India Mentally retarded Biology South Africa Fragile X chromosome Testis Genetics medicine Humans Child Sex Chromosome Aberrations Genetics (clinical) Chromosomal fragile site Normal intelligence Heterozygote advantage Middle Aged medicine.disease Pedigree Fragile X syndrome Hemizygote Child Preschool Fragile X Syndrome Female |
| Zdroj: | Clinical Genetics. 23:311-317 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | A large Indian kindred in which the fragile X chromosome is segregating has been investigated in Cape Town. Eight male hemizygotes and four female heterozygotes were mentally retarded. There is suggestive evidence that one deceased male of reportedly normal intelligence may have been a hemizygote. The existence of the fragile X syndrome in a number of different ethnic groups supports the contention that the gene controlling the phenotype and the fragile site are the same, or at least overlap. |
| Databáze: | OpenAIRE |
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