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

Journal article

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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Authors: Horsley, S; Knight, S; Nixon, J; Huson, S; Fitchett, M

• Publication status: Published
• Journal: Journal of medical genetics
• Volume: 35
• Issue: 9
• Pages: 722-726
• Publication date: 1998-09-01
• DOI: 10.1136/jmg.35.9.722
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Adult; Chromosome Disorders; Translocation, Genetic; Chromosome Deletion; Arthritis; Humans; Female; Telomere; Karyotyping; Keratosis; Muscular Atrophy, Spinal; In Situ Hybridization, Fluorescence; Chromosome Aberrations; Chromosomes, Human, Pair 18