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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas Humanos Par 3
/
Pruebas Genéticas
/
Deleción Cromosómica
/
Variaciones en el Número de Copia de ADN
/
Genética
/
Cardiopatías Congénitas
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2018
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS