Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH

• Published in: Human genetics Vol. 106; no. 4; pp. 392 - 398
• Main Authors: BEZROOKOVE, V, HANSSON, K, ROSENBERG, C, VAN DER BURG, M, VAN DER SMAGT, J. J, HILHORST-HOFSTEE, Y, WIEGANT, J, BEVERSTOCK, G. C, RAAP, A. K, TANKE, H, BREUNING, M. H
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.04.2000; Berlin; New York, NY
• Subjects: Adolescent; Biological and medical sciences; Child, Preschool; Chromosome Aberrations - diagnosis; Chromosome Banding; Chromosome Disorders; Chromosome Painting - economics; Chromosome Painting - methods; Cost-Benefit Analysis; Cytogenetics; Female; Fundamental and applied biological sciences. Psychology; Genetic Counseling; Genetics of eukaryotes. Biological and molecular evolution; Human; Humans; Infant; Infant, Newborn; Karyotyping; Male; Middle Aged; Prenatal Diagnosis; Translocation, Genetic; Chromosomal aberration; Case study; Human; Family study; Fluorescence in situ hybridization; Cytogenetics; Diagnosis; Karyotype; Chromosome G banding
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s004390000268

The simultaneous identification, by fluorescence in situ hybridisation (FISH), of each chromosome in a distinct colour became feasible a few years ago. The key question in the application of this and many other developments in molecular cytogenetics to clinical situations is whether the results add significant further information that is relevant to the diagnosis. So far, limited data exist regarding how much improvement the technique brings to the diagnosis of phenotypically abnormal individuals in whom no abnormalities have been detected by conventional G-banding analysis. Because of the lack of a conclusive diagnosis, genetic counselling, estimation of recurrence risk and prenatal diagnosis of these individuals and their relatives is problematic. We report a study with 24-colour whole-chromosome painting of 10 familial and 11 isolated cases with abnormal phenotypes and normal G-banding karyotypes. Previously undetected unbalanced translocations were revealed in two cases. The value and current cost-effectiveness of multicolour FISH for cytogenetic diagnosis is discussed.