Neurofibromatosis in a man with a ring 22: In situ hybridization studies

Duncan, Alessandra M.V.; Partington, M. W.; Soudek, D.

doi:10.1016/0165-4608(87)90173-7

Cited by 23 publications

(16 citation statements)

References 9 publications

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“…[8][9][10][11][12] Kehrer-Sawatzki et al 8 suggested dividing r (22) patients into three groups: patients with NF2, those without NF2 but with multiple meningiomatosis, and those without features of either disease. Each of the classical r (22) patients in the present study have NF2.…”

Section: Discussionmentioning

confidence: 99%

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

Tsilchorozidou¹,

Menko²,

Lalloo³

et al. 2004

Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 99%

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

Tsilchorozidou¹,

Menko²,

Lalloo³

et al. 2004

Journal of Medical Genetics

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“…Similarly, a highly proliferating melanocytic congenital naevus with somatic mosaicism of chromosome 7 was found in a male child with a constitutional ring chromosome 7 (Mehraein et al, 2004). A close association between constitutional rings of chromosome 22 and meningiomas (Arinami et al, 1986;Petrella et al, 1993) or neurofibromatosis 1 or 2 (Duncan et al, 1987;Kehrer-Sawatzki et al, 1997;Tsilchorozidou et al, 2004) is well documented. In addition, an atypical teratoid/rhabdoid brain tumor was found in a girl with r(22) (Rubio, 1997).…”

Section: Constitutional Rings and Neoplasiamentioning

confidence: 93%

Ring chromosomes in human neoplasias

Gebhart

2008

Cytogenet Genome Res

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Though reported from a wide variety of human neoplasias, ring chromosomes, in general, are a rare finding in these diseases. The majority were detected by chance when tumors were screened for chromosomal aberrations. In most cases they are a part of highly complex karyotypic alterations and therefore part of unfavourable prognostic factors. However, in some tumor entities (e.g. tumors of mesenchymal origin) they are of such high prevalence (up to 70% of these tumors) and of such extraordinary specificity that they can even serve as cytogenetic hallmarks for differential diagnosis and for prognostic purposes. The well-known technical problems in malignant cells of achieving high banding quality to define all single chromosomal alterations have severely hampered clear identification of the chromosomes involved in rings until recently. Substantial progress of ring identification could only be achieved when molecular cytogenetic techniques became available. By these techniques it could not only be shown that certain breakpoint regions nonrandomly contribute to ring rearrangements which – at least in certain malignancies – are of basic importance, but also the molecular consequences of these changes could be defined in some cases. The present review summarizes a great number of reports on a total of 760 ring chromosomes in human neoplasias at different sites, but includes only cases with clearly identified rings. In addition, the molecular consequences of ring formation are addressed wherever pertinent information has recently been presented in the literature.

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“…An increased number of cells with dicentric r (22) could result in some phenotypic features of ''cat eye syndrome'', 22 combining pre-auricular skin tags or pits with iris colobomata. In contrast, the presence of a large number of cells with loss of the r (22), resulting in loss of the NF2 gene and other tumour suppressor genes on chromosome 22, could increase the risk of developing neurofibromatosis [23][24][25][26] and also tumours of the nervous system. [27][28][29][30] The 22q13 deletions are most often paternal in origin The expression of the phenotype was not affected by parental origin of the deleted chromosome in either the 22q13 deletion syndrome or the r(22) syndrome.…”

Section: Is There Any Difference Between the R(22) And The Del(22)(q1mentioning

confidence: 99%

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Luciani

2003

Journal of Medical Genetics

122

135

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Neurofibromatosis in a man with a ring 22: In situ hybridization studies

Cited by 23 publications

References 9 publications

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

Ring chromosomes in human neoplasias

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

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