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Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y‐chromosome marker, IDIC(Yp)
Author(s) -
Bernstein Renée,
Steinhaus Kathryn A.,
Cain Mary Jo
Publication year - 1992
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.1970120904
Subject(s) - centromere , fluorescence in situ hybridization , karyotype , biology , marker chromosome , in situ hybridization , amniocentesis , microbiology and biotechnology , y chromosome , prenatal diagnosis , chromosome , autosome , genetics , fetus , gene , pregnancy , messenger rna
An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non‐fluorescent marker. C‐banding identified the marker as an isodicentric in 12 cells. In two cells, the non‐fluorescent marker appeared to be monocentric and looked like a non‐fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y‐specific centromeric probe confirmed the Y‐chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.