Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problems
| Autor: | R H Smythe, L M Columbano-Green, D R Romain, O Gebbie, C J Chapman |
|---|---|
| Rok vydání: | 1982 |
| Předmět: |
Male
Proband Genetics medicine.medical_specialty Mental Disorders Chromosomes Human 1-3 Chromosome Karyotype Case Reports Biology C banding Chromosome Banding Pedigree Family studies Male patient Karyotyping Chromosome Inversion medicine Humans Chromosomes Human 4-5 Psychiatry Genetics (clinical) Chromosomal inversion |
| Zdroj: | Journal of Medical Genetics. 19:153-155 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.19.2.153 |
| Popis: | Two pericentric inversions were found in the karyotype of a male patient referred for psychiatric problems. Cytogenetic analysis, using conventional Giemsa staining and G and C banding techniques, revealed a pericentric inversion in chromosome 2, inv(2)(p11q13), and chromosome 5, inv(5)(p13q13) (fig 1). Subsequent family studies showed that the proband's father carried both inversions also (fig 2), while other members were found to be carriers of either the inverted 2 or the inverted 5. To our knowledge, this is the first report of two pericentric inversions to be found in the human genome. |
| Databáze: | OpenAIRE |
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