The clinical application of spectral karyotyping in the analysis of chromosomal abnormalities / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 80-83, 2007.
Article
em Zh
| WPRIM
| ID: wpr-285028
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate value of spectral karyotyping (SKY) in the detection of chromosomal abnormalities.</p><p><b>METHODS</b>A total of 17 metaphase chromosome samples were investigated by SKY, including 10 normal and 5 balanced translocation samples of peripheral blood lymphocytes, one der(Y) sample of peripheral blood lymphocytes and one marker chromosome sample of amniotic fluid cells. The results were compared with those of G-banding diagnosis.</p><p><b>RESULTS</b>Ten normal and 5 balanced translocation samples were diagnosed successfully by SKY in accordance with the results of G-banding; furthermore, SKY analysis revealed that the der(Y) fragment originated from p-arm of chromosome 21 while the marker chromosome originated from chromosome 5.</p><p><b>CONCLUSION</b>SKY is a very sensitive and specific whole genome analysis tool for chromosomal abnormality diagnosis, and exceedingly valuable in the diagnosis on complex chromosomal abnormalities that can not be determined by G-banding.</p>
Texto completo:
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Índice:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
/
Reprodutibilidade dos Testes
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Aberrações Cromossômicas
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Bandeamento Cromossômico
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Sensibilidade e Especificidade
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Transtornos Cromossômicos
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Cariotipagem Espectral
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Diagnóstico
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Genética
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Métodos
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2007
Tipo de documento:
Article