| Autor: |
Debiec-Rychter Maria, Sciot Raf, Bowers Naomi, Van Calenbergh Frank, Evans Gareth D, de Cock Paul, Brems Hilde, Denayer Ellen, Vermeesch Joris V, Fryns Jean-Pierre, Legius Eric |
| Jazyk: |
angličtina |
| Rok vydání: |
2009 |
| Předmět: |
|
| Zdroj: |
BMC Medical Genetics, Vol 10, Iss 1, p 97 (2009) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2350 |
| DOI: |
10.1186/1471-2350-10-97 |
| Popis: |
Abstract Background Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet. Methods We report on a female patient with a ring chromosome 22 presenting with severe mental retardation, autistic behaviour, café-au-lait macules and facial dysmorphism. Peripheral blood lymphocytes were karyotyped and array CGH was performed on extracted DNA. At the age of 20 years she was diagnosed with a unilateral vestibular schwannoma. Tumour cells were analyzed by karyotyping, array CGH and NF2 mutation analysis. Results Karyotype on peripheral blood lymphocytes revealed a ring chromosome 22 in all analyzed cells. A 1 Mb array CGH experiment on peripheral blood DNA showed a deletion of 5 terminal clones on the long arm of chromosome 22. Genetic analysis of vestibular schwannoma tissue revealed loss of the ring chromosome 22 and a somatic second hit in the NF2 gene on the remaining chromosome 22. Conclusion We conclude that tumours can arise by the combination of loss of the ring chromosome and a pathogenic NF2 mutation on the remaining chromosome 22 in patients with ring chromosome 22. Our findings indicate that patients with a ring 22 should be monitored for NF2-related tumours starting in adolescence. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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