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Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with corpus callosum agenesis
Affiliations- Department of Gynecology and Obstetrics, Xijing Hospital, The Fourth Military Medical University, Xi'an Shaanxi, China
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Abstract
Objectives: The corpus callosum is the main pathway that connects interhemispheric communication. Agenesis of corpus callosum (ACC) have not consistently detected replicate genetic risk factors, potentially due to Etiological heterogeneity of this trait. This study aimed to retrospectively analyze the molecular basis for the ACC and the potential genotyping-phenotyping association and provide the basis for genetic counselling.
Material and methods: Karyotyping and chromosomal microarray analysis were performed for copy number variants.
Results: Three cases had 1p36 deletions, two cases had 2q31.2 and 2p16.3 microdeletions, one case had microdeletion of Xq26.3q27.1, five cases involved derived chromosomes due to unbalanced translocations. These cases had variable deletions and duplications with partial overlapping. Phenotypically, besides agenesis of corpus callosum and other brain morphological abnormalities as well as heart abnormalities.
Conclusions: ACC may occur alone or be related to other abnormal clinical phenotypes, and its genetic mechanism is very complicated. These results revealed ACC is associated with a variety of chromosomal abnormalities. The findings of the present study expand the genotypes associated with ACC, and further delineation of the genotype–phenotype correlations for ACC. With current applications of chromosome microarray analysis, congenital submicroscopic copy-number variations in fetuses can be detected more effectively.
Abstract
Objectives: The corpus callosum is the main pathway that connects interhemispheric communication. Agenesis of corpus callosum (ACC) have not consistently detected replicate genetic risk factors, potentially due to Etiological heterogeneity of this trait. This study aimed to retrospectively analyze the molecular basis for the ACC and the potential genotyping-phenotyping association and provide the basis for genetic counselling.
Material and methods: Karyotyping and chromosomal microarray analysis were performed for copy number variants.
Results: Three cases had 1p36 deletions, two cases had 2q31.2 and 2p16.3 microdeletions, one case had microdeletion of Xq26.3q27.1, five cases involved derived chromosomes due to unbalanced translocations. These cases had variable deletions and duplications with partial overlapping. Phenotypically, besides agenesis of corpus callosum and other brain morphological abnormalities as well as heart abnormalities.
Conclusions: ACC may occur alone or be related to other abnormal clinical phenotypes, and its genetic mechanism is very complicated. These results revealed ACC is associated with a variety of chromosomal abnormalities. The findings of the present study expand the genotypes associated with ACC, and further delineation of the genotype–phenotype correlations for ACC. With current applications of chromosome microarray analysis, congenital submicroscopic copy-number variations in fetuses can be detected more effectively.
Keywords
agenesis of corpus callosum; chromosomal abnormalities; amniocentesis; chromosomal microarray analysis; karyotype
About this articleTitle
Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with corpus callosum agenesis
Journal
Issue
Article type
Research paper
Published online
2023-04-26
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380
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322
DOI
Pubmed
Keywords
agenesis of corpus callosum
chromosomal abnormalities
amniocentesis
chromosomal microarray analysis
karyotype
Authors
zheng jiao
Tingting Song
Ying Xu
Jia Li
Pengfei Liu
Jiangfang Zhang
Hong Yang
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