Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-12

AUTHORS

Heike Starke, Angela Nietzel, Anja Weise, Anita Heller, Kristin Mrasek, Britta Belitz, Christine Kelbova, Marianne Volleth, Beate Albrecht, Beate Mitulla, Ralf Trappe, Iris Bartels, Sabine Adolph, Andreas Dufke, Sylke Singer, Markus Stumm, Rolf-Dieter Wegner, Jörg Seidel, Angela Schmidt, Alma Kuechler, Isolde Schreyer, Uwe Claussen, Ferdinand von Eggeling, Thomas Liehr

ABSTRACT

Small supernumerary marker chromosomes (SMCs) are present in about 0.05% of the human population. In approximately 30% of SMC carriers (excluding the approximately 60% SMC derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. The clinical outcome of an SMC is difficult to predict as they can have different phenotypic consequences because of (1). differences in euchromatic DNA-content, (2). different degrees of mosaicism, and/or (3). uniparental disomy (UPD) of the chromosomes homologous to the SMC. Here, we present 35 SMCs, which are derived from all human chromosomes, apart from chromosome 6, as demonstrated by the appropriate molecular cytogenetic approaches, such as centromere-specific multicolor fluoresence in situ hybridization (cenM-FISH), multicolor banding (MCB), and subcentromere-specific multicolor FISH (subcenM-FISH). In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Abnormal clinical findings, such as psychomotoric retardation and/or craniofacial dysmorphisms, were associated with seven of the cases in which subcentromeric single-copy probes were proven to be present in three copies. Conversely, in eight cases with a normal phenotype, proximal euchromatic material was detected as partial trisomy. UPD was studied in 12 cases and subsequently detected in two of the cases with SMC (partial UPD 4p and maternal UPD 22 in a der(22)-syndrome patient), indicating that SMC carriers have an enhanced risk for UPD. At present, small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms. With respect to clinical outcome, a classification of SMCs is proposed that considers molecular genetic and molecular cytogenetic characteristics as demonstrated by presently available methods. More... »

PAGES

51-67

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-003-1016-3

    DOI

    http://dx.doi.org/10.1007/s00439-003-1016-3

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1019558454

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/13680362


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