De novo (11;13) translocation
| Autor: | Christa Fonatsch, Sibylle D. Flatz, Angelika Stendel |
|---|---|
| Rok vydání: | 1975 |
| Předmět: |
Genetics
Chromosome Aberrations Chromosomes Human 6-12 and X Isochromosome Chromosome Infant Karyotype Chromosomal translocation Biology Translocation Genetic Chromosome 15 Phenotype Child Preschool Karyotyping Centromere Humans Female Dermatoglyphics Genetics (clinical) X chromosome Chromosomes Human 13-15 Chromosome 13 |
| Zdroj: | Humangenetik. 28(2) |
| ISSN: | 0018-7348 |
| Popis: | A male infant is described with unusual facial appearance, clubfeet, and moderate hydrocephalus internus without obvious deficiency in mental and physical development. Cytogenetic studies revealed a karyotype of 45,XY,--C,--D,+t(C;D). A chromosome 11 and a 13 are involved in the formation of the translocation chromosome. The long arm of chromosome 13 is linearly attached to the end of the long arm of chromosome 11 (tandem translocation). Chromosome material of the distal part of the long arm of chromosome 11, as well as the short arm plus the centromere of chromosome 13 seem to have been lost. |
| Databáze: | OpenAIRE |
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