Ring chromosome 6: Variability in phenotypic expression
| Autor: | J. N. Peeden, P. Scarbrough, K. Taysi, R. S. Wilroy, S. Finley, F. Luthardt, P. Martens, P. N. Howard-Peebles, John M. Opitz |
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| Rok vydání: | 1983 |
| Předmět: |
Adult
Chromosome Aberrations Chromosomes Human 6-12 and X Male Genetics Autosome Derivative chromosome Marker chromosome Ring chromosome Infant Newborn Genetic Variation Chromosome Disorders Biology Chromosome Banding Chromosome 15 Phenotype Pregnancy Karyotyping Humans Female Chromosome 21 Genetics (clinical) X chromosome Chromosomal inversion |
| Zdroj: | American Journal of Medical Genetics. 16:563-573 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320160413 |
| Popis: | We present four children with a ring chromosome 6. Clinically, these cases are quite variable. A review of ten previously reported cases also suggests difficulty of phenotype-karyotype correlation in patients with a ring 6. |
| Databáze: | OpenAIRE |
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