ArticleMolecular cytogenetics2013
Complex small supernumerary marker chromosomes - an update.
Article in Molecular cytogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review.Frontiers in genetics · 2019Pooled it
- Review
- Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.Clinical case reports · 2025Article
- A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.Frontiers in genetics · 2024Article
- Small supernumerary marker chromosomes derived from human chromosome 11.Frontiers in genetics · 2023Article
- De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2022Article
- Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)-Case Report.Molecular cytogenetics · 2022Article
- A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.Molecular cytogenetics · 2021Article
- Small supernumerary marker chromosomes derived from chromosome 14 and/or 22.Molecular cytogenetics · 2021Article
- Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.PLoS genetics · 2019Article
- What Is Karyotype Coding and Why Is Genomic Topology Important for Cancer and Evolution?Frontiers in genetics · 2019Review
- Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report.BMC pediatrics · 2018Article
- Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.Human mutation · 2018Article
- Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems.Molecular cytogenetics · 2018Review
- Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities.International journal of molecular and cellular medicine · 2017Article
- Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.Molecular syndromology · 2016Article
- Why it is crucial to analyze non clonal chromosome aberrations or NCCAs?Molecular cytogenetics · 2016Article
- A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement.Journal of pediatric genetics · 2015Article
- 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.Molecular cytogenetics · 2015Article
- Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.Molecular cytogenetics · 2015Article
Corrections and comments
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Authors and funding
17 authors at 10 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundComplex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome; the best known representative of this group is the derivative chromosome 22 {der(22)t(11;22)} or Emanuel syndrome. In 2008 we speculated that complex sSMC could be part of an underestimated entity.
resultsHere, the overall yet reported 412 complex sSMC are summarized. They constitute 8.4% of all yet in detail characterized sSMC cases. The majority of the complex sSMC is contributed by patients suffering from Emanuel syndrome (82%). Besides there are a der(22)t(8;22)(q24.1;q11.1) and a der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21;q11.1) = der(13 or 21)t(13 or 21;18) syndrome. The latter two represent another 2.6% and 2.2% of the complex sSMC-cases, respectively. The large majority of complex sSMC has a centric minute shape and derives from an acrocentric chromosome. Nonetheless, complex sSMC can involve material from each chromosomal origin. Most complex sSMC are inherited form a balanced translocation in one parent and are non-mosaic. Interestingly, there are hot spots for the chromosomal breakpoints involved.
conclusionsComplex sSMC need to be considered in diagnostics, especially in non-mosaic, centric minute shaped sSMC. As yet three complex-sSMC-associated syndromes are identified. As recurrent breakpoints in the complex sSMC were characterized, it is to be expected that more syndromes are identified in this subgroup of sSMC. Overall, complex sSMC emphasize once more the importance of detailed cytogenetic analyses, especially in patients with idiopathic mental retardation.
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