PRENATAL INVESTIGATION OF A 45,X/46,X,R(QUESTIONABLE) KARYOTYPE IN AMNIOCYTES USING FLUORESCENCE INSITU HYBRIDIZATION WITH AN X-CENTROMERIC PROBE

被引:8
作者
BAJALICA, S
BUI, TH
KOCH, J
BRONDUMNIELSEN, K
机构
[1] KAROLINSKA HOSP,DEPT CLIN GENET,S-10401 STOCKHOLM 60,SWEDEN
[2] AARHUS UNIV,INST HUMAN GENET,DK-8000 AARHUS,DENMARK
关键词
MARKER CHROMOSOME; INSITU HYBRIDIZATION; PRENATAL DIAGNOSIS;
D O I
10.1002/pd.1970120109
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:61 / 64
页数:4
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