Detection of mosaic trisomy 9 missed by conventional cytogenetics using SNP-array and fluorescence in situ hybridization / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 469-471, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-291751
ABSTRACT
<p><b>OBJECTIVE</b>To detect mosaic trisomy 9 missed by conventional cytogenetics.</p><p><b>METHODS</b>Peripheral blood genomic DNA from a girl with mental retardation was analyzed using Affymetrix CytoScan (TM) HD array. Fluorescence in situ hybridization (FISH) was also performed on samples from two patients.</p><p><b>RESULTS</b>The SNP-array analysis has revealed multiple duplications along chromosome 9. FISH analysis showed that, for the peripheral blood sample from one patient, 40 of 100 interphase cells and 15 of 100 metaphase cells carried trisomy 9. For the cord blood sample from another patient, 35 of 100 interphase cells and 10 of 100 cultured cells carried trisomy 9.</p><p><b>CONCLUSION</b>SNP-array is useful for detecting low-level mosaicism which may be missed by conventional cytogenetics. Combined with karyotype and microarray analyses, FISH is a focused and targeted approach for diagnosing mosaic trisomy. They may provide a useful tool for differentiating pseudomosaicisms from true mosaicisms.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Trissomia
/
Cromossomos Humanos Par 9
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Embriologia
/
Hibridização in Situ Fluorescente
/
Análise de Sequência com Séries de Oligonucleotídeos
/
Polimorfismo de Nucleotídeo Único
/
Biologia Celular
/
Dissomia Uniparental
/
Diagnóstico
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
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