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.
Article
en Zh
| WPRIM
| ID: wpr-291751
Biblioteca responsable:
WPRO
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:
1
Base de datos:
WPRIM
Asunto principal:
Diagnóstico Prenatal
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Trisomía
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Cromosomas Humanos Par 9
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Embriología
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Hibridación Fluorescente in Situ
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Análisis de Secuencia por Matrices de Oligonucleótidos
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Polimorfismo de Nucleótido Simple
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Biología Celular
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Disomía Uniparental
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Diagnóstico
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
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Female
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Humans
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Infant
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Male
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2014
Tipo del documento:
Article