Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome
| Autor: | Jan B. Bijlsma, Henny F. de France, Liesbeth M. Bleeker-Wagemakers, Piet F. Dijkstra |
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| Rok vydání: | 1978 |
| Předmět: |
Male
Heterozygote Prominent forehead Adolescent Chromosomal translocation Trisomy Biology Translocation Genetic Loss of heterozygosity Dysmorphic feature Intellectual Disability Genetics medicine Humans Abnormalities Multiple Index case Genetics (clinical) Chromosomes Human 6-12 and X Partial Trisomy Chromosomes Human 1-3 Anatomy medicine.disease Pedigree Bridge (graph theory) Karyotyping |
| Zdroj: | Human genetics. 40(2) |
| ISSN: | 0340-6717 |
| Popis: | Double translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of a double translocation in more than one generation has not been previously published. The index case was a 16-year-old mentally retarded boy with partial trisomy 12p who showed several dysmorphic features such as high prominent forehead, flat face, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip, and several skeletal abnormalities. Based on the findings in this patient and those in nine other cases, the existence of a specific trisomy 12p syndrome is postulated. |
| Databáze: | OpenAIRE |
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