Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2
| Autor: | Akira Tonomura, Akira Tamura, Mitsushiro Kida, Shinji Karasawa, Koichi Ichimura, Eiko Arai, Yasuhito Yuasa, Kohtaro Yamamoto, Tatsuro Ikeuchi |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
Adult
Neurofibromatosis 2 congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Tumor suppressor gene Chromosomes Human Pair 22 Gene Expression Translocation Breakpoint Chromosomal translocation Biology Translocation Genetic Genes Neurofibromatosis 2 otorhinolaryngologic diseases medicine Humans Neurofibromatosis type 2 Neurofibromatosis Genetics (clinical) Genetics Cytogenetics Chromosome Mapping Karyotype DNA Neoplasm medicine.disease Chromosome Banding Female Chromosomes Human Pair 4 Chromosome 22 |
| Zdroj: | American Journal of Medical Genetics. 44:163-167 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320440209 |
| Popis: | We report on a female patient with bilateral acoustic neurinomas and other tumors in the central nervous system (neurofibromatosis type 2: NF2) and the constitutional translocation, t(4;22) (q12;q12.2). The precise identification of the translocation breakpoint (q12.2) on chromosome 22 implies the refined localization of a gene responsible for NF2, and would provide a clue to its molecular characterization and to the isolation of the gene. Chromosomes of a paraspinal neurinoma from the patient were also analyzed, and the same karyotype as seen in cultured peripheral lymphocytes was found. The patient's father was also a carrier of the translocation, but he had no clinical symptoms of NF2, nor did other relatives. Several explanations are offered for the different expression of the translocation between the patient and her father. © 1992 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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