Premium
Prenatal diagnosis of a de novo supernumerary marker derived from chromosome 16
Author(s) -
Hengstschläger Markus,
Bettelheim Dieter,
Drahonsky Regina,
Deutinger Josef,
Bernaschek Gerhard
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.95
Subject(s) - small supernumerary marker chromosome , supernumerary , marker chromosome , prenatal diagnosis , biology , genetics , fluorescence in situ hybridization , chromosome , genetic marker , phenotype , karyotype , fetus , pregnancy , gene , anatomy
Marker chromosomes are supernumerary chromosomes of unknown origin and are seldom found in prenatal diagnosis. Application of fluorescent in situ hybridization (FISH) allows the identification of the chromosomal origin of markers. Estimation of the risk of an abnormal phenotype outcome can be enabled by collecting data on phenotypes associated with markers of the same chromosomal origin. So far only very few cases of prenatal diagnosis of de novo supernumerary markers derived from chromosome 16 have been reported. Here the prenatal diagnosis of a de novo supernumerary marker chromosome 16 is described and the relevant literature discussed. Copyright © 2001 John Wiley & Sons, Ltd.