Chromosome in situ suppression hybridisation in clinical cytogenetics

• Published in: Journal of medical genetics Vol. 28; no. 9; pp. 577 - 582
• Main Authors: Hulten, M A, Gould, C P, Goldman, A S, Waters, J J
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-09-1991; BMJ; BMJ Publishing Group LTD
• Subjects: Adult; Biological and medical sciences; Child; Chromosome Aberrations - genetics; Chromosome Banding; Chromosome Disorders; Chromosomes, Human - ultrastructure; Cytogenetics; Cytogenetics - methods; Fundamental and applied biological sciences. Psychology; Gene Library; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Intellectual Disability - genetics; Male; Marfan Syndrome - genetics; Microscopy, Fluorescence; Molecular Probe Techniques; Nucleic Acid Hybridization; Translocation, Genetic; Human; Molecular hybridization; In situ; Cytogenetics; Genetics; Molecular probe; Gene library; Technique; Molecular biology
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.28.9.577

The use of chromosome in situ suppression hybridisation with whole chromosome libraries has previously been reported by various research laboratories to be an effective method of identifying specific human chromosomal material. As a clinical cytogenetic service laboratory we have used the technique as a complement to diagnosis by classical chromosome banding. In three examples of structural rearrangements the potential use of the 'chromosome painting' method is assessed for its ability to enhance the routine cytogenetic service currently available.