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
in Zh
| WPRIM
| ID: wpr-687969
Responsible library:
WPRO
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>
Full text:
1
Database:
WPRIM
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 3
/
Genetic Testing
/
Chromosome Deletion
/
DNA Copy Number Variations
/
Genetics
/
Heart Defects, Congenital
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Document type:
Article