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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):210-3. doi: 10.3760/cma.j.issn.1003-9406.2013.04.020.

[Application of combined fluorescence in situ hybridization and karyotype analysis for the diagnosis of Robertsonian translocation type trisomy 21].

[Article in Chinese]

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  • 1Central Laboratory, Taizhou Hospital, Linhai, Zhejiang 317000, P.R. China.



To assess the value of fluorescence in situ hybridization (FISH) combined with chromosomal analysis for the detection of Robertsonian translocation type trisomy 21 in amniotic fluid cells.


Amniotic fluid samples from pregnant women requesting prenatal diagnosis were cultivated. Metaphase cells were prepared for G-banding karyotype analysis. For the 5 Robertsonian translocation type trisomy 21, interphase nuclei from amniotic fluid and parental peripheral blood cells were prepared for FISH analysis.


In 2 cases, analysis of parental peripheral blood cells showed normal karyotypes. FISH analysis of amniotic fluid cells indicated that one sample had two copies of chromosome 21, which has a 46, XY, rob(21;21)(q10;q10) karyotype, whilst another had trisomy 21 by FISH, which has a 46, XY, rob(14;21)(q10;q10) karyotype. For the remaining three samples, analysis of parental peripheral blood cells indicated that their karyotypes were 45, XX, rob(14;21)(q10;q10), 45, XX, rob(15;21)(q10;q10) and 45, XX, rob(21;22)(q10;q10), whilst the karyotypes of amniotic fluid cells were 46, XX, rob(14;21)(q10;q10), 46, XY, rob(15;21)(q10;q10) and 46, XX, rob(21;22)(q10;q10), respectively.


Combined FISH and chromosomal analysis is an efficient method for detecting non-homologous Robertsonian translocation type trisomy 21. However, FISH has limited ability to detect homologous Robertsonian translocation type trisomy 21.

[PubMed - indexed for MEDLINE]
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