Small supernumerary marker chromosomes (sSMCs) in humans are simultaneously numerical and structural aberrations from the standard karyotype of 46,XX or 46,XY. sSMCs can originate from each chromosome, contain heterochromatic and/or euchromatic material, and the latter can be derived from one or several chromosomes. sSMCs can have no, minor or major clinical consequences for the carrier. Still, the best way to identify them is banding cytogenetics followed by combined molecular cytogenetics and chromosomal microarray (CMA) studies. Besides, optical genomic mapping and modern high throughput sequencing approaches also are applied for sSMC studies. Even though progress in genotype-phenotype correlation of sSMCs has been achieved during the last years, still many questions are open. Research is also necessary concerning their formation, mitotic stability, and meiotic behavior.
The aim of this Research Topic is to invite reports on yet unpublished sSMC cases together with their clinical characteristics, insights on how sSMCs are performed nowadays with classical and modern approaches, how a centromere near CNV (gain of copy numbers) picked up in CMA is leading to sSMC-characterization. Single and multiple case reports, as well as studies on cell lines and any kind of study suited to enlighten the centromere near regions in terms of their dosage-dependent gene content. Finally, sSMCs share several characteristics with B-chromosomes, which can be observed in many animal and plant species. Thus, besides sSMC- also B-chromosome related research with a potential impact on sSMC field are welcome for this Research Topic. Specifically, ways of formation of sSMCs and B-chromosomes have not been studied yet at all.
Areas to be covered in this Research Topic may include, but are not limited to:
- sSMC case reports with a comprehensive review of literature and optimally a progress of genotype-phenotype correlation
- sSMC formation
- Uniparental disomy and sSMCs
- Mosaicism in sSMCs
- Chromothripsis in sSMCs
- Methods/schemes for sSMC characterization
- B-chromosome research in animals or plants
- McClintock mechanism in sSMC cases
- Neocentromeres and sSMCs
Small supernumerary marker chromosomes (sSMCs) in humans are simultaneously numerical and structural aberrations from the standard karyotype of 46,XX or 46,XY. sSMCs can originate from each chromosome, contain heterochromatic and/or euchromatic material, and the latter can be derived from one or several chromosomes. sSMCs can have no, minor or major clinical consequences for the carrier. Still, the best way to identify them is banding cytogenetics followed by combined molecular cytogenetics and chromosomal microarray (CMA) studies. Besides, optical genomic mapping and modern high throughput sequencing approaches also are applied for sSMC studies. Even though progress in genotype-phenotype correlation of sSMCs has been achieved during the last years, still many questions are open. Research is also necessary concerning their formation, mitotic stability, and meiotic behavior.
The aim of this Research Topic is to invite reports on yet unpublished sSMC cases together with their clinical characteristics, insights on how sSMCs are performed nowadays with classical and modern approaches, how a centromere near CNV (gain of copy numbers) picked up in CMA is leading to sSMC-characterization. Single and multiple case reports, as well as studies on cell lines and any kind of study suited to enlighten the centromere near regions in terms of their dosage-dependent gene content. Finally, sSMCs share several characteristics with B-chromosomes, which can be observed in many animal and plant species. Thus, besides sSMC- also B-chromosome related research with a potential impact on sSMC field are welcome for this Research Topic. Specifically, ways of formation of sSMCs and B-chromosomes have not been studied yet at all.
Areas to be covered in this Research Topic may include, but are not limited to:
- sSMC case reports with a comprehensive review of literature and optimally a progress of genotype-phenotype correlation
- sSMC formation
- Uniparental disomy and sSMCs
- Mosaicism in sSMCs
- Chromothripsis in sSMCs
- Methods/schemes for sSMC characterization
- B-chromosome research in animals or plants
- McClintock mechanism in sSMC cases
- Neocentromeres and sSMCs
