Table of Contents

HK J Paediatr (New Series)
Vol 5. No. 1, 2000

HK J Paediatr (New Series) 2000;5:86

Proceedings of 2nd Hong Kong Medical Genetics Conference

Recent Advances in Cytogenetics

XY Guan

HK J Paediatr (new series) 2000;5:85-89

Proceedings of 2nd Hong Kong Medical Genetics Conference, Hong Kong Society of Medical Genetics (Selected Abstracts)
15-17 October, 1999

Chromosomal abnormalities are a leading cause of genetic diseases including congenital disorders and acquired disease such as cancer. One significant technical limitation of conventional chromosome banding analysis is the inability to characterize unequivocally all cytogenetically visible chromosome rearrangements such as unknown marker chromosomes and unidentifiable de novo unbalanced translocations. Recently, molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH), chromosome microdissection, and comparative genomic hybridization (CGH) have been widely applied in cytogenetic study. The application of these techniques overcomes the limitation of conventional cytogenetic techniques in identification of complex chromosomal rearrangements. After many efforts, chromosome microdissection has been developed into a useful and reproducible approach to directly detect virtually any kind of visible chromosome rearrangements and to generate different FISH painting probes including whole chromosome, chromosome arm, and band-specific painting probes for cytogenetic study. CGH is an approach to analyze the entire genome for regional variations of DNA sequence copy number (gain, loss and amplification of DNA sequences) in a single experiment. This technique has been widely applied to detect recurrent copy number changes and highlight chromosomal regions containing genes that contribute to cancer development and progression. The application of these techniques will greatly facilitate cytogenetic study.


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