Another small supernumerary marker chromosome (sSMC) derived from chromosome 2: Towards a genotype/phenotype correlation

被引：9

作者：

Mrasek, K ^{[1
]}

Starke, H ^{[1
]}

Liehr, T ^{[1
]}

机构：

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

来源：

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY | 2005年 / 53卷 / 03期

关键词：

prenatal diagnosis; FISH; small supernumerary marker chromosome; chromosome; 2q; genotype/phenotype correlation;

D O I：

10.1369/jhc.4B6414.2005

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Here we report a prenatally detected small supernumerary marker chromosome (sSMC) derived from chromosome 2 as demonstrated by cenM-FISH (centromere-specific multicolor fluorescence in situ hybridization). By application of a recently described sulocentromere-specific probe set (subcenM-FISH) for chromosome 2, the presence of a small partial trisomy due to a karyotype 47,XX,+r(2)(::p11.1 -> ql 1.2::) was demonstrated. Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested.

引用

页码：367 / 370

页数：4

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