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Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
- Source :
- Cytogenetic and Genome Research. 147:10-16
- Publication Year :
- 2015
- Publisher :
- S. Karger AG, 2015.
-
Abstract
- Karyotyping and aCGH are routinely used to identify genetic determinants of major congenital malformations (MCMs) in fetal deaths or terminations of pregnancy after prenatal diagnosis. Pathogenic rearrangements are found with a variable rate of 9-39% for aCGH. We collected 33 fetuses, 9 with a single MCM and 24 with MCMs involving 2-4 organ systems. aCGH revealed copy number variants in 14 out of 33 cases (42%). Eight were classified as pathogenic which account for a detection rate of 24% (8/33) considering fetuses with 1 or more MCMs and 33% (8/24) taking into account fetuses with multiple malformations only. Three of the pathogenic variants were known microdeletion syndromes (22q11.21 deletion, central chromosome 22q11.21 deletion, and TAR syndrome) and 5 were large rearrangements, adding up to >11 Mb per subject and comprising strong phenotype-related genes. One of those was a de novo complex rearrangement, and the remaining 4 duplications and 2 deletions were 130-900 kb in size, containing 1-7 genes, and were classified as variants of unknown clinical significance. Our study confirms aCGH as a powerful technique to ascertain the genetic etiology of fetal major congenital malformations.
- Subjects :
- DNA Copy Number Variations
Genotype
congenital malformation
CNV
Prenatal diagnosis
Biology
fetal malformation
array-CGH
copy number variants
deletions and duplications
Fetus
Pregnancy
Prenatal Diagnosis
Chromosome Duplication
Gene duplication
Genetics
medicine
Humans
Abnormalities, Multiple
Copy-number variation
Molecular Biology
Genetics (clinical)
Comparative Genomic Hybridization
TAR syndrome
Chromosome
Karyotype
medicine.disease
Phenotype
Karyotyping
Female
Autopsy
Chromosome Deletion
Comparative genomic hybridization
Subjects
Details
- ISSN :
- 1424859X and 14248581
- Volume :
- 147
- Database :
- OpenAIRE
- Journal :
- Cytogenetic and Genome Research
- Accession number :
- edsair.doi.dedup.....c440f21408fc1f55e96ddbb9f11661ef