ABSTRACT
The human genome project has been declared to be finished by 2003. However, in the almost two decades since then, it has been a well-known truism that there was almost 10% of the DNA-sequence still not accessed, yet. A chromosome-specific subcenM-FISH probe set consists of a centromere-specific satellite probe, one centromere-near locus-specific probe in the long arm and the short arm, and chromosome arm-specific probes. On the other hand, CMA can also be the initial hint that a patient is not carrier of a simple intra-chromosomal duplication or unbalanced translocation but of an supernumerary marker chromosomes (sSMC). CMA can only be applied in euchromatic sSMCs without mosaicism. Meanwhile, a relatively good correlation of sSMC content and clinics is available, being extremely helpful in genetic counseling.
