Complex small supernumerary marker chromosomes – an update

Molecular Cytogenetics

Ahmed B Hamid²  Marianne Volleth^1,11  Nadezda Kosyakova²  Monika Ziegler²  Elisabeth Klein²  Katharina Kreskowski²  Dilek Aktas⁴  Eunice-Georgia G Stefanou⁷  Roberta S Guilherme⁵  Maria Isabel Melaragno⁵  Ivan Iourov⁹  Jörg Weimer^1,10  Cynthia de Almeida⁶  Marija Guc-Scekic⁸  Tanja Lalic¹  Sanja Cirkovic¹  Thomas Liehr³ 

[1] Laboratory for Medical Genetics, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoje Dakic str. 6-8, Belgrade 11070, Serbia;Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, Jena D-07743, Germany;Institut für Humangenetik, Postfach, Jena D-07740, Germany;Hacettepe University School of Medicine, Dept of Medical Genetics, 06100 Sihhiye, Ankara, Turkey;Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, São Paulo SP, 04023-900, Brazil;Military Hospital associated with "Universidad de la República (UDELAR)", Montevideo, Uruguay;Department of Pediatrics, Laboratory of Medical Genetics, University General Hospital of Patras, Rion, Patras 26504, Greece;University of Belgrade, Faculty of Biology, Belgrade, Serbia;Institute of Pediatrics and Children Surgery, RF Ministry of Health, Moscow, Russia;Department of Gynecology and Obstetrics, UKSH Campus Kiel, Arnold-Heller-Str. 3; House 24, Kiel 24105, Germany;Institut für Humangenetik, Universitätsklinikum, Leipziger Str. 44, Magdeburg 39120, Germany

关键词: Emanuel syndrome;    SSMC shape;    Mosaicism;    Genotype-phenotype correlation;    Complex small supernumerary marker chromosomes (sSMC);   

Others  :  1150766
DOI  :  10.1186/1755-8166-6-46

 received in 2013-09-23, accepted in 2013-09-26,  发布年份 2013

【 摘 要 】

Background

Complex 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.

Results

Here, 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.

Conclusions

Complex 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.

【 授权许可】

   
2013 Liehr et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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