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Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X‐centromeric probe
Author(s) -
Bajalica Svetlana,
Bui TheHung,
Koch Jørn,
BröndumNielsen Karen
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.1970120109
Subject(s) - karyotype , fluorescence in situ hybridization , centromere , autosome , fish <actinopterygii> , biology , x chromosome , microbiology and biotechnology , ring chromosome , prenatal diagnosis , hybridization probe , in situ hybridization , chromosome , in situ , cytogenetics , genetics , fetus , chemistry , dna , pregnancy , gene , gene expression , organic chemistry , fishery
The karyotype of cultured amniotic fluid cells obtained on the indication of advanced maternal age was shown to be a mosaic 45,X/46,X,r(?). The small size and banding pattern made it difficult to determine whether the ring was derived from and X or a Y chromosome, or even from an autosome. By using an X‐centromeric probe and fluorescence in situ hybridization (FISH), we demonstrated the ring to have an X centromere. Thus, a more complete genetic counselling was possible. This confirms the usefulness of FISH in identifying and characterizing this and other chromosome rearrangements in prenatal diagnosis.