Application of chromosome microarray analysis for prenatal diagnosis of a fetus with partial duplication of 1p and uniparental disomy of chromosome 6 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 819-822, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-287981
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic cause for a fetus with structural anomaly, and to correlate the phenotype with the genotype.</p><p><b>METHODS</b>Amniotic fluid was obtained following the revelation of structural anomaly by ultrasonography. Cell culture and direct DNA extraction were performed in parallel. G-banded karyotyping analysis and chromosome microarray analysis (CMA) were subsequently carried out.</p><p><b>RESULTS</b>G-banded karyotyping has suggested the fetus to be a normal male. However, CMA analysis has revealed the presence of a mosaic 3.24 Mb duplication of 1p36.33p36.32 (24%) and uniparental disomy (UPD) of chromosome 6. The genetic diagnosis for the fetus was therefore 46,XY, arr 1p36.33 p36.32(849,466-4,090,472)×2-3, (6)×2 hmz. The anomaly can probably explain the ultrasound findings in the fetus.</p><p><b>CONCLUSION</b>Compared with conventional cytogenetic methods, CMA has greater resolution and throughput, and can serve as a more efficient platform for the detection of chromosomal microdeletion, microduplication, loss of heterozygosity and UPD.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 1
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Cromossomos Humanos Par 6
/
Reprodutibilidade dos Testes
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Aberrações Cromossômicas
/
Sensibilidade e Especificidade
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Análise de Sequência com Séries de Oligonucleotídeos
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Polimorfismo de Nucleotídeo Único
/
Biologia Celular
/
Dissomia Uniparental
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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