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Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization
Author(s) -
Reeser Suzanne L.,
Donnenfeld Alan E.,
Miller Robert C.,
Sellinger Beatrice S.,
Emanuel Beverly S.,
Driscoll Deborah A.
Publication year - 1994
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.1970141104
Subject(s) - fluorescence in situ hybridization , prenatal diagnosis , in situ hybridization , in situ , medicine , derivative chromosome , chromosome , genetics , biology , pregnancy , chemistry , fetus , gene , organic chemistry , gene expression
Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46, XX/47, XX,+mar. A bisatellited, dicentric, distamycin‐DAPI negative, NOR‐positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 a ‐satellite probe and a chromosome 22‐specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.