Another small supernumerary marker chromosome (sSMC) derived from chromosome 2: towards a genotype/phenotype correlation.
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 subcentromere-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->q11.2::) 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.
Mrasek
Kristin
K
Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany.
Starke
Heike
H
Liehr
Thomas
T
D002889:Chromosomes, Human, Pair 2; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype; D011247:Pregnancy; D014314:Trisomy; D024182:Uniparental Disomy
D005819:Genetic Markers