Molecular cytogenetic techniques in detecting subtle chromosomal imbalances

• Authors: B. Kaluzewski , M. Constantinou , E. Zajac
• Languages of publication: EN

Abstracts

EN

Diagnostic possibilities of CGH and M-FISH techniques for detection of submicroscopic chromosomal imbalancies were compared on the basis of two cases of t(X;Y) and one case of marker chromosome. In cases with t(X;Y), the sequences specific for chromosome Y were detected by PCR and CGH, but the localisation of these sequences on the short arm of chromosome X was confirmed by the FISH technique, employing two Yp-specific probes for SRY and TSPY genes. Significant differences between above cases were revealed in the size of Yp chromosome fragments translocated on chromosome X. An extra material of chromosome marker could not be identified by classical banding and FISH techniques and it was only CGH and M-FISH techniques that enabled detecting the chromosomal origin of the marker. The applied CGH technique enabled finding subtle chromosomal imbalancies in the presented cases with a resolution of approximately 3 Mbp.

Keywords

EN

CHROMOSOMAL IMBALANCIES; CHROMOSOME MARKER

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2003
• Volume: 44
• Issue: 4
• Pages: 539-546

Contributors

author

B. Kaluzewski

author

M. Constantinou

author

E. Zajac

• Document Type: ARTICLE
• Publication order reference: B. Kaluzewski, Department of Medical Genetics, Medical University of Lodz, ul. Sterlinga 1/3, 91-425 Lodz, Poland