Duplication deficiency as the result of meiotic segregation of a maternal InV (10)
| Autor: | Olga María Torres de Caballero, Emilio Yunis |
|---|---|
| Rok vydání: | 1981 |
| Předmět: |
Adult
Male Chromosome Disorders Trisomy Biology Gonadal Dysgenesis Meiosis Centromere Gene duplication Genetics Humans Lymphocytes Child Genetics (clinical) Chromosomal inversion Chromosome Aberrations Chromosomes Human 6-12 and X Gonadal Dysgenesis 46 XY Chromosome Karyotype Chromosome Banding Pedigree Karyotyping Chromosome Inversion Three generations |
| Zdroj: | Human Genetics. 57:71-74 |
| ISSN: | 1432-1203 0340-6717 |
| Popis: | In a family a large pericentric inversion involving nearly 70% of the chromosome 10 has been segregating during three generations, giving several carriers and an affected male with the karyotype 46,XY,der(10)(10pter Leads to 10q25::10p12 Leads to 10pter)mat. The patient is trisomic for 10p except for a small segment near the centromere, and monosomic for the distal 10q26. A simple diagrammatic representation explains the behavior of the inv(10) in meiosis. The study of meiotic segregation in the present case, and the reviews of previously reported duplication-deficiencies, agree with established postulates and add some principles to the understanding of duplication deficiencies resulting from the meiotic behavior of inverted chromosomes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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