Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

被引：26

作者：

Trifonov, Vladimir ^{[1
,2
]}

Fluri, Simon ^{[3
]}

Binkert, Franz ^{[4
]}

Nandini, Adayapalam ^{[5
]}

Anderson, Jasen ^{[6
]}

Rodriguez, Laura ^{[7
]}

Gross, Madeleine ^{[1
]}

Kosyakova, Nadezda ^{[1
]}

Mkrtchyan, Hasmik ^{[1
]}

Ewers, Elisabeth ^{[1
]}

Reich, Daniela ^{[1
]}

Weise, Anja ^{[1
]}

Liehr, Thomas ^{[1
]}

机构：

[1] Inst Humangenet & Anthropol, D-07743 Jena, Germany

[2] Univ Cambridge, Dept Clin Vet Med, Cambridge CB3 0ES, England

[3] Univ Kinderklin, Inselspital, CH-3010 Bern, Switzerland

[4] MCL, Med Lab, CH-3127 Niederwangen, Switzerland

[5] Queensland Hlth Pathol Serv, Dept Cytogenet, Herston, Qld 4029, Australia

[6] Sullivan Nicolaides Pathol, Dept Cytogenet, Taringa, Qld, Australia

[7] Minist Sanidad Consumo, Inst Salud Carlos III, Estudio Colaborativo Espanol Malformaciones Conge, Ctr Invest Anomalias Congenitas, Madrid, Spain

来源：

MOLECULAR CYTOGENETICS | 2008年 / 1卷 / 1期

关键词：

Biliary Atresia; Club Foot; Acrocentric Chromosome; Derivative Chromosome; Centromeric Probe;

D O I：

10.1186/1755-8166-1-6

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Small supernumerary marker chromosomes (sSMC) are present similar to 2.6 x 10(6) human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22) t(11;22)(q23;q11), only few so-called complex sSMC are reported. Results: Here we report three new cases of unique complex sSMC. One was a de novo case with a dic(13 or 21;22) and two were maternally derived: a der(18) t(8;18) and a der(13 or 21) t(13 or 21;18). Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be under-diagnosed among sSMC-carriers. Conclusion: More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only similar to 0.9% among all sSMC.

引用

页数：7

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