Fragile site Xq27.3 in a family without mental retardation
| Autor: | D R Romain, C J Chapman |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Genetic Markers Male congenital hereditary and neonatal diseases and abnormalities X Chromosome Intelligence Gene Expression Trisomy X fragile syndrome Prenatal diagnosis Sister Family studies Genetics medicine Humans Sex Chromosome Aberrations Genetics (clinical) business.industry Chromosomal fragile site Karyotype Chromosome Fragility medicine.disease Fragile X syndrome Fragile X Syndrome Female business |
| Zdroj: | Clinical Genetics. 41:33-35 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1992.tb03625.x |
| Popis: | Romain DR. Chapman CJ. Fragile site Xq27.3 in a family without mental retardation. Clin Genet 1992:41: 33–35. Routine parental blood analysis for a couple undergoing prenatal diagnosis because of maternal age, revealed a 47,XXX karyotype in the mother and expression of the fragile site Xq27.3 in the father. Additional family studies show the fragile site in the father's sister and her two sons. There is no history of intellectual handicap in this family, nor of any physical manifestations of the Fra(X) mental retardation syndrome. |
| Databáze: | OpenAIRE |
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