Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour.

2.50
Hdl Handle:
http://hdl.handle.net/10541/95488
Title:
Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour.
Authors:
Hoban, Paul R; Cowen, Rachel L; Mitchell, Erika L D; Evans, D Gareth R; Kelly, M; Howard, P J; Heighway, Jim
Abstract:
A 6 month old boy presented with bilateral Wilms' tumour. Cytogenetic analysis of the lymphocytes from the patient showed a de novo balanced translocation t(5;6)(q21;q21), which was also present in the tumour material as the sole cytogenetic abnormality. To facilitate the identification of the translocation breakpoints, we have established a lymphoblastoid cell line (MA214L) from the patient which maintains the translocation in culture. We have used Genethon microsatellite markers as sequence tagged sites (STSs) to isolate yeast artificial chromosome (YAC) clones to 5q and 6q from human genomic libraries. Using fluorescence in situ hybridisation (FISH) on metaphase preparations of MA214L, we have physically defined the translocation breakpoints between YAC clones on each chromosome arm. The genetic distance separating the flanking YACs on 6q21 is 3 cM, while that on 5q21 is 4 cM. To date this is the first report of these chromosomal regions being implicated in Wilms' tumourigenesis.
Affiliation:
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital (NHS) Trust, Manchester, UK.
Citation:
Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour. 1997, 34 (4):343-5 J. Med. Genet.
Journal:
Journal of Medical Genetics
Issue Date:
Apr-1997
URI:
http://hdl.handle.net/10541/95488
DOI:
10.1136/jmg.34.4.343
PubMed ID:
9138163
Type:
Article
Language:
en
ISSN:
0022-2593
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorHoban, Paul Ren
dc.contributor.authorCowen, Rachel Len
dc.contributor.authorMitchell, Erika L Den
dc.contributor.authorEvans, D Gareth Ren
dc.contributor.authorKelly, Men
dc.contributor.authorHoward, P Jen
dc.contributor.authorHeighway, Jimen
dc.date.accessioned2010-04-01T14:16:16Z-
dc.date.available2010-04-01T14:16:16Z-
dc.date.issued1997-04-
dc.identifier.citationPhysical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour. 1997, 34 (4):343-5 J. Med. Genet.en
dc.identifier.issn0022-2593-
dc.identifier.pmid9138163-
dc.identifier.doi10.1136/jmg.34.4.343-
dc.identifier.urihttp://hdl.handle.net/10541/95488-
dc.description.abstractA 6 month old boy presented with bilateral Wilms' tumour. Cytogenetic analysis of the lymphocytes from the patient showed a de novo balanced translocation t(5;6)(q21;q21), which was also present in the tumour material as the sole cytogenetic abnormality. To facilitate the identification of the translocation breakpoints, we have established a lymphoblastoid cell line (MA214L) from the patient which maintains the translocation in culture. We have used Genethon microsatellite markers as sequence tagged sites (STSs) to isolate yeast artificial chromosome (YAC) clones to 5q and 6q from human genomic libraries. Using fluorescence in situ hybridisation (FISH) on metaphase preparations of MA214L, we have physically defined the translocation breakpoints between YAC clones on each chromosome arm. The genetic distance separating the flanking YACs on 6q21 is 3 cM, while that on 5q21 is 4 cM. To date this is the first report of these chromosomal regions being implicated in Wilms' tumourigenesis.en
dc.language.isoenen
dc.subjectWilms Tumouren
dc.subject.meshChromosome Fragility-
dc.subject.meshChromosome Mapping-
dc.subject.meshChromosomes, Human, Pair 5-
dc.subject.meshChromosomes, Human, Pair 6-
dc.subject.meshHeterozygote-
dc.subject.meshHumans-
dc.subject.meshIn Situ Hybridization, Fluorescence-
dc.subject.meshInfant-
dc.subject.meshMale-
dc.subject.meshTranslocation, Genetic-
dc.subject.meshWilms Tumor-
dc.titlePhysical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour.en
dc.typeArticleen
dc.contributor.departmentCRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital (NHS) Trust, Manchester, UK.en
dc.identifier.journalJournal of Medical Geneticsen

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