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Mol Cytogenet. 2013 Oct 31;6:46. doi: 10.1186/1755-8166-6-46. eCollection 2013.

Complex small supernumerary marker chromosomes - an update.

Author information

1
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, Jena D-07743, Germany ; Institut für Humangenetik, Postfach, Jena D-07740, Germany.
2
Laboratory for Medical Genetics, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoje Dakic str. 6-8, Belgrade 11070, Serbia.
3
Laboratory for Medical Genetics, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Radoje Dakic str. 6-8, Belgrade 11070, Serbia ; University of Belgrade, Faculty of Biology, Belgrade, Serbia.
4
Military Hospital associated with "Universidad de la República (UDELAR)", Montevideo, Uruguay.
5
Department of Gynecology and Obstetrics, UKSH Campus Kiel, Arnold-Heller-Str. 3; House 24, Kiel 24105, Germany.
6
Research Center for Mental Health, RAMS, Moscow, Russia ; Institute of Pediatrics and Children Surgery, RF Ministry of Health, Moscow, Russia.
7
Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, São Paulo SP, 04023-900, Brazil.
8
Department of Pediatrics, Laboratory of Medical Genetics, University General Hospital of Patras, Rion, Patras 26504, Greece.
9
Hacettepe University School of Medicine, Dept of Medical Genetics, 06100 Sihhiye, Ankara, Turkey.
10
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, Jena D-07743, Germany.
11
Institut für Humangenetik, Universitätsklinikum, Leipziger Str. 44, Magdeburg 39120, Germany.

Abstract

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.

KEYWORDS:

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

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