De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene
| Autor: | J H Hersh, F F Yen, S C Peiper, M J Barch, O A Yacoub, D H Voss, J L Roberts |
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| Rok vydání: | 1995 |
| Předmět: |
Adult
Male Candidate gene Thanatophoric Dysplasia Thanatophoric dysplasia Lethal skeletal dysplasia Chromosomal translocation Locus (genetics) Biology Translocation Genetic Pregnancy Diseases in Twins Genetics medicine Humans Genetics (clinical) Chromosomes Human Pair 10 Infant Newborn Karyotype medicine.disease Osteochondrodysplasia Chromosome Banding Chromosomes Human Pair 1 Chromosome abnormality Female Research Article |
| Zdroj: | Journal of Medical Genetics. 32:293-295 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.32.4.293 |
| Popis: | A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia. |
| Databáze: | OpenAIRE |
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