Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities

Human Genetics
E SchröckT Ried

Abstract

Karyotype analysis by chromosome banding is the standard method for identifying numerical and structural chromosomal aberrations in pre- and postnatal cytogenetics laboratories. However, the chromosomal origins of markers, subtle translocations, or complex chromosomal rearrangements are often difficult to identify with certainty. We have developed a novel karyotyping technique, termed spectral karyotyping (SKY), which is based on the simultaneous hybridization of 24 chromosome-specific painting probes labeled with different fluorochromes or fluorochrome combinations. The measurement of defined emission spectra by means of interferometer-based spectral imaging allows for the definitive discernment of all human chromosomes in different colors. Here, we report the comprehensive karyotype analysis of 16 samples from different cytogenetic laboratories by merging conventional cytogenetic methodology and spectral karyotyping. This approach could become a powerful tool for the cytogeneticists, because it results in a considerable improvement of karyotype analysis by identifying chromosomal aberrations not previously detected by G-banding alone. Advantages, limitations, and future directions of spectral karyotyping are discussed.

Citations

Mar 29, 2002·Genes, Chromosomes & Cancer·Kanji KawaiSteve Goodison
Mar 14, 2009·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Michael J ZeitzRonald Berezney
Mar 11, 2000·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·J J Going, B A Gusterson
Jun 18, 2002·Trends in Molecular Medicine·Holger Tönnies
Apr 12, 2001·Clinical Genetics·L N SchultzC Lundsteen
Nov 23, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa G Shaffer, UNKNOWN American College of Medical Genetics Professional Practice and Guidelines Committee
Nov 30, 2006·Molecular and Cellular Biology·Bryan E SnowLea Harrington
Jun 9, 2004·Proceedings of the National Academy of Sciences of the United States of America·Stephanie SmithKyungjaem Myung
Apr 30, 2003·Seminars in Oncology·Roelandt F J Schop, Rafael Fonseca
Dec 8, 2009·Molecular and Cellular Endocrinology·Horst ZitzelsbergerKristian Unger
Jul 28, 2007·Cancer Genetics and Cytogenetics·Heidrun D GerrJanet D Rowley
Nov 28, 2006·Seminars in Cancer Biology·Jane BayaniJeremy A Squire
Jul 13, 2006·BJU International·John L Phillips, Ingrid C Richardson

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