Genetic analysis of two fetuses with congenital heart defects and 3q microdeletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 240-243, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-687969
ABSTRACT
<p><b>OBJECTIVE</b>To determine the nature of genomic copy number variations (CNVs) in two fetuses with congenital heart defects (CHD) and explore the correlation between 3q microdeletions and CHD.</p><p><b>METHODS</b>Genomic DNA was extracted from fetal umbilical cord tissue, and chromosome copy number variations were detected by low coverage whole genome sequencing.</p><p><b>RESULTS</b>Both fetuses had microdeletions of the long arm of chromosome 3. Fetus 1 had ventricular septal defect, cleft lip and palate, and a 1.66 Mb deletion on 3q29. The deleted region encompassed all of the critical genes for 3q29 microdeletion syndrome. Fetus 2 had overriding aorta, ventricular septal defect, and a novel 240 kb deletion on 3q28.</p><p><b>CONCLUSION</b>3q29 microdeletion may result in CHD in combination with cleft lip and palate. Genomic CNVs can be detected by low coverage whole genome sequencing.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Cromossomos Humanos Par 3
/
Testes Genéticos
/
Deleção Cromossômica
/
Variações do Número de Cópias de DNA
/
Genética
/
Cardiopatias Congênitas
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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