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Application of single nucleotide polymorphism array for the identification of pathogenic copy number variations in fetuses with malformations and women with an adverse reproductive history / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 173-177, 2017.
Artigo em Chinês | WPRIM | ID: wpr-335162
ABSTRACT
<p><b>OBJECTIVE</b>To apply single nucleotide polymorphism microarray (SNP array) for the detection of genome-wide copy number variations(CNVs) in fetuses with malformations and women with an adverse reproductive history, and to explore the correlation of rare CNVs with the clinical manifestations.</p><p><b>METHODS</b>Amniotic fluid and umbilical cord blood samples were collected from 314 women with singleton pregnancy. SNP array was performed on samples where chromosomal abnormalities were excluded after G-banding analysis.</p><p><b>RESULTS</b>Pathological CNVs were detected in 8.91% (28/314) of all samples, which included 11 duplications, 9 deletions, 4 loss of heterozygosity (LOH), and 4 conjoined deletions and duplications. The sizes of duplications and deletions were between 0.47 Mb and 16.7 Mb, and between 0.16 Mb and 13.3 Mb, respectively. Fifteen CNVs were mapped to the regions of microdeletion or microduplication syndromes or regions associated with clinical manifestations, while the remainder 13 were considered benign or variant of uncertain significance.</p><p><b>CONCLUSION</b>A proportion of fetuses with malformations and women with an adverse reproductive history may be attributed to CNVs, half of which are mapped with to the regions of well known syndromes. SNP array may facilitate discovery of new syndromes and provide a basis for genetic counseling and prenatal diagnosis.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Complicações na Gravidez / Diagnóstico Pré-Natal / Embriologia / Aberrações Cromossômicas / História Reprodutiva / Transtornos Cromossômicos / Polimorfismo de Nucleotídeo Único / Diagnóstico / Variações do Número de Cópias de DNA / Doenças Fetais Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Adulto / Feminino / Humanos / Lactente / Masculino / Recém-Nascido / Gravidez Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2017 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Complicações na Gravidez / Diagnóstico Pré-Natal / Embriologia / Aberrações Cromossômicas / História Reprodutiva / Transtornos Cromossômicos / Polimorfismo de Nucleotídeo Único / Diagnóstico / Variações do Número de Cópias de DNA / Doenças Fetais Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Adulto / Feminino / Humanos / Lactente / Masculino / Recém-Nascido / Gravidez Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2017 Tipo de documento: Artigo