Direct duplication 2p14?2p23
| Autor: | José T. González, Ruth Zúñiga, Torres de Caballero Om, Emilio Yunis, Mondragon A |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
Chromosome Aberrations
Male Genetics Chromosomes Human 1-3 Infant Newborn Trisomy Karyotype Syndrome Biology medicine.disease Infant newborn Human genetics Chromosome Banding Karyotyping Gene duplication Chromosome abnormality medicine Humans Abnormalities Multiple Metabolic disease Genetics (clinical) |
| Zdroj: | Human Genetics. 48:241-244 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14 to 2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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