Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease.
Fluorescence in situ hybridisation and comparative genomic hybridisation are technologies firmly established in cytogenetics. These methods complement conventional banding techniques and offer additional clinical and research applications. The present paper has two purposes: (a) to introduce to these molecular cytogenetic techniques and (b) to give some examples of childhood diseases due to chromosomal aberrations.
Stumm
M
M
Institut für Humangenetik, Universitätsklinikum Magdeburg, Germany. Markus.Stumm@Medizin.Uni-Magdeburg.de
Tönnies
H
H
Wieacker
P F
PF
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics*; D025063:Chromosome Disorders; D003582:Cytogenetics / Q000379:methods; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D012680:Sensitivity and Specificity