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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Chromosomes humains de la paire 3
/
Dépistage génétique
/
Délétion de segment de chromosome
/
Variations de nombre de copies de segment d'ADN
/
Génétique
/
Cardiopathies congénitales
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Femelle
/
Humains
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2018
Type:
Article
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