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Journal article

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Abstract:

We have previously described a fluorescence in situ hybridisation (FISH) assay for the simultaneous analysis of all human subtelomeric regions using a single microscope slide. Here we report the use of this multiprobe FISH assay in the study of a patient whose karyotype was reported by G banding analysis as 46,XX,del(18)(p11.2). Although the proband had some features suggestive of a chromosomal abnormality, relatively few of the specific features of del(18p) were present. She was a 37 year ol...

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Publication status:
Published

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Publisher copy:
10.1136/jmg.35.9.722

Authors


Horsley, SW More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Fitchett, M More by this author
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Journal:
Journal of medical genetics
Volume:
35
Issue:
9
Pages:
722-726
Publication date:
1998-09-05
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
URN:
uuid:831edd90-1dbd-427f-9f75-d571e383d2e7
Source identifiers:
36225
Local pid:
pubs:36225

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