Partial trisomy 13 in a case of Cyclopia with 13/14 translocation
| Autor: | R. A. Osborne, G. R. Hennigar, D. N. Singh, R. A. Wiscovitch |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Chromosome Disorders Trisomy Chromosomal translocation Biology Genetics medicine Humans Abnormalities Multiple Eye Abnormalities Lymphocytes Cells Cultured Genetics (clinical) Chromosome 13 Chromosome Aberrations Partial Trisomy Infant Newborn Chromosome Ear Karyotype Syndrome Cyclopia medicine.disease Molecular biology Microscopy Fluorescence Dysplasia Karyotyping Autopsy Orbit Chromosomes Human 13-15 Brain Stem |
| Zdroj: | Clinical Genetics. 5:218-222 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1974.tb01685.x |
| Popis: | An infant with median facio-cerebral dysplasia and a nose-like tubular appendage (Cyclopia) is reported. Cytogenetic study of this case reveals a partial trisomy of chromosome 13 via the long arms of 13/14 translocation chromosome. This particular arrangement of the partial trisomy is clearly identified by the new quinacrine fluorescence and trypsin banding techniques. Cytogenetic analysis of the parents revealed normal chromosomal complements. |
| Databáze: | OpenAIRE |
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