[Application of combined fluorescence in situ hybridization and karyotype analysis for the diagnosis of Robertsonian translocation type trisomy 21].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(2): 210-3, 2013 Apr.
Article
em Zh
| MEDLINE
| ID: mdl-23568738
ABSTRACT
OBJECTIVE:
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.METHODS:
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.RESULTS:
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.CONCLUSION:
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Translocação Genética
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Hibridização in Situ Fluorescente
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Síndrome de Down
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Cariotipagem
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Ano de publicação:
2013
Tipo de documento:
Article