[Strategies to identify supernumerary chromosomal markers in constitutional cytogenetics].
Supernumerary marker chromosomes (SMCs) are defined as extrastructurally abnormal chromosomes which origin and composition cannot be determined by conventional cytogenetics. SMCs are an heterogeneous group of abnormalities concerning all chromosomes with variable structure and size and are associated with phenotypic heterogeneity. The characterisation of SMCs is of utmost importance for genetic counselling. Different molecular techniques are used to identify chromosomal material present in markers such as 24-colour FISH (MFISH, SKY), centromere specific multicolour FISH (cenMFISH) and derivatives (acroMFISH, subcenMFISH), comparative genomic hybridisation (CGH), arrayCGH, and targeted FISH techniques (banding techniques, whole chromosome painting...). Based on the morphology of SMC with conventional cytogenetic and clinical data, we tried to set up different molecular strategies with all available techniques.
Douet-Guilbert
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N
Laboratoire d'histologie, embryologie et cytogénétique, faculté de médecine et des sciences de la santé, université de Bretagne occidentale, 22, avenue Camille-Desmoulins, 29238 Brest cedex 3, France. nathalie.douet-guilbert@chu-brest.fr
Basinko
A
A
Le Bris
M-J
MJ
Herry
A
A
Morel
F
F
De Braekeleer
M
M
D000782:Aneuploidy; D002503:Centromere / Q000235:genetics; D002871:Chromosome Banding / Q000379:methods; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D020223:Chromosome Painting / Q000379:methods; D020732:Cytogenetic Analysis / Q000379:methods*; D020440:Gene Duplication; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping / Q000379:methods; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009693:Nucleic Acid Hybridization / Q000379:methods; D015345:Oligonucleotide Probes
D005819:Genetic Markers; D015345:Oligonucleotide Probes