Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe.
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.
Bajalica
S
S
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Bui
T H
TH
Koch
J
J
Bröndum-Nielsen
K
K
D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D005260:Female; D005452:Fluoresceins; D006801:Humans; D007621:Karyotyping; D008856:Microscopy, Fluorescence; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*
D005452:Fluoresceins