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Characterization of i(18p) in prenatal diagnosis by fluorescence in situ hybridization
Author(s) -
Yu LohChung,
Williams John,
Wang Boris B. T.,
Vooljs Marc,
Weier HeinzUlrich G.,
Sakamoto Masaru,
Ying KuangLin
Publication year - 1993
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.1970130507
Subject(s) - isochromosome , karyotype , fluorescence in situ hybridization , prenatal diagnosis , microbiology and biotechnology , chromosome 18 , biology , chromosome , chorionic villus sampling , chorionic villi , marker chromosome , hybridization probe , genetics , dna , fetus , pregnancy , gene
A case is presented in which chorionic villus direct preparation and cultured chorionic villus cells revealed a 47,XX, + mar karyotype. The marker was a small metacentric chromosome and appeared to be i(18p)—isochromosome 18p. Follow‐up studies in both amniotic fluid and fetal fibroblasts confirmed the karyotype. In order to characterize the marker, a panel of biotinylated DNA probes was used, including a whole chromosome 18 probe, chromosome 18‐specific alpha satellite DNA, Yac clones, and a pan‐telomeric probe. These studies show that the marker is a monocentric i(18p) in which about 80 per cent of chromosome 18 alpha satellite DNA has been lost.