Article
Biotechnology & Applied Microbiology
Liubing Lan, Lingna She, Bosen Zhang, Yanhong He, Zhiyuan Zheng
Summary: This study aimed to investigate the relationship between fetal abnormalities and copy number variations (CNVs) to prevent the birth of children with birth defects. Results showed that CNV-seq combined with karyotype analysis can improve the detection rate of chromosomal abnormalities, with pathogenic CNVs detected in 4.05% of cases. Further research is needed to explore the effectiveness of this approach in clinical practice.
JOURNAL OF GENE MEDICINE
(2021)
Article
Biotechnology & Applied Microbiology
Xia Zhang, Qingyan Huang, Zhikang Yu, Heming Wu
Summary: This study aimed to explore the relationship between miscarriage and stillbirth with copy number variations (CNVs) by analyzing 659 fetal samples. Results showed 48.86% of cases had chromosomal abnormalities, with numerical abnormalities increasing with maternal age, and structural abnormalities differing significantly among age groups. Numerical chromosomal abnormalities also decreased with increasing gestational age of the fetuses.
JOURNAL OF GENE MEDICINE
(2021)
Article
Medicine, General & Internal
Jessica Kang, Chien-Nan Lee, Yi-Ning Su, Ming-Wei Lin, Yi-Yun Tai, Wen-Wei Hsu, Kuan-Ying Huang, Chi-Ling Chen, Chien-Hui Hung, Shin-Yu Lin
Summary: The study analyzed data from 36 pregnant women who underwent prenatal microarray analysis at National Taiwan University Hospital, focusing on 15q11.2 copy number variants (CNVs) involving the BP1-BP2 region. The prognosis of 15q11.2 CNVs remains controversial, with some fetuses having microduplications and others with microdeletions. While some pregnant women chose termination of pregnancy, no obvious developmental delays or neurological disorders were detected in early childhood.
FRONTIERS IN MEDICINE
(2021)
Article
Genetics & Heredity
Alyssa S. Wetzel, Benjamin W. Darbro
Summary: This article provides a comprehensive list of microdeletion and microduplication syndromes (MMS) reported in the medical literature to date, along with relevant references and data descriptions. This list will contribute to further research and clinical diagnosis.
Article
Genetics & Heredity
Derek J. C. Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, Xander Nuttle, Celine E. De Esch, Ryan L. Collins, Benjamin B. Currall, Kathryn O'Keefe, Nicholas D. Burt, Rachita Yadav, Lily Wang, Kiana Mohajeri, Tatsiana Aneichyk, Ashok Ragavendran, Alexei Stortchevoi, Elisabetta Morini, Weiyuan Ma, Diane Lucente, Alex Hastie, Raymond J. Kelleher, Roy H. Perlis, Michael E. Talkowski, James F. Gusella
Summary: Chromosome 16p11.2 reciprocal genomic disorder is associated with intellectual disabilities, ASD, and schizophrenia. This disorder disrupts multiple biological processes and affects gene expression and neuronal ratios, potentially impacting neurodevelopment and cognitive function.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Joy Yoon, Yingwei Mao
Summary: Pathogenic copy number variations (CNVs) play a crucial role in neurodevelopmental/neuropsychiatric disorders (NDs), with the 1q21.1 CNVs showing specific associations with different phenotypes. The genetic structure associated with 1q21.1 is strongly linked to neurodevelopmental dysfunctions like cognitive impairment and reduced synaptic plasticity, posing challenges for the discovery of molecular pathways and phenotypic networks. Variations in phenotypic severity, genomic penetrance, and inheritance are also reported.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Dinka Smajlagic, Ksenia Lavrichenko, Siren Berland, Oyvind Helgeland, Gun Peggy Knudsen, Marc Vaudel, Jan Haavik, Per Morten Knappskog, Pal Rasmus Njolstad, Gunnar Houge, Stefan Johansson
Summary: The study analyzed the inheritance patterns of 26 recurrent NDD CNVs in 13 genomic regions in 12,252 mother-father-child trios from the Norwegian Mother, Father, and Child Cohort Study. The total prevalence of recurrent NDD CNVs in live-born children was estimated to be 0.48%, with approximately a third being de novo variants. The prevalence of different NDD CNVs varied, highlighting the importance of the results for genetic diagnostics and counseling.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Obstetrics & Gynecology
Meiying Cai, Yanting Que, Xuemei Chen, Yuqing Chen, Bin Liang, Hailong Huang, Liangpu Xu, Na Lin
Summary: This study analyzed the prenatal ultrasound phenotypic characteristics associated with 16p13.11 microdeletion/microduplication. It was found that fetuses with this genetic condition did not show characteristic ultrasound phenotypes and had good health after birth, providing valuable information for diagnosis and management of this disease.
BMC PREGNANCY AND CHILDBIRTH
(2022)
Article
Agriculture, Dairy & Animal Science
Nora Laseca, Antonio Molina, Mercedes Valera, Alicia Antonini, Sebastian Demyda-Peyras
Summary: This study provides a detailed characterization of CNV regions in the Pura Raza Espanola horse breed, revealing a unique pattern of genomic regions enriched in CNVs and the incidence of CNVs across the entire genome. The study also identifies genes related to olfactory pathways and immune response. The findings contribute to our understanding of CNVs in equines and their impact on genetic and phenotypic variations.
Article
Genetics & Heredity
Jinghang Zhou, Liyuan Liu, Thomas J. Lopdell, Dorian J. Garrick, Yuangang Shi
Summary: The R package presented integrates various functions involved in CNV and ROH studies, providing a standardized, comprehensive, reproducible, timesaving, and user-friendly post-analysis system for researchers in humans and most diploid livestock species.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Jinghang Zhou, Liyuan Liu, Edwardo Reynolds, Xixia Huang, Dorian Garrick, Yuangang Shi
Summary: The study aimed to discover common CNV regions in a cattle population and compare the results obtained using different genome assemblies and CNV detection methods. The newly released ARS reference assembly was found to be better for CNV detection, and using multiple methods can lead to the identification of more interesting genes.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Shaohua Zhu, Chunyang Jia, Shengju Hao, Qinghua Zhang, Jing He, Xing Wang, Pengwu Lin, Yuanyuan Guo, Yigang Li, Xuan Feng
Summary: The study aimed to explore and compare the clinical effects of high-resolution non-invasive prenatal screening (NIPS-Plus) for common/uncommon chromosomal aneuploidy and microdeletion/microduplication syndromes (MMS). The results showed that NIPS-Plus had good performance in prenatal screening and diagnosis, with the best detection effect for T21 and small fragment CNV abnormalities. It is recommended to use NIPS-Plus as a comprehensive prenatal screening method for all pregnant women, but the detection method and efficiency need to be improved for MMS caused by abnormal large fragment CNV.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Veronika Gordeeva, Elena Sharova, Georgij Arapidi
Summary: This article reviews the major approaches for detecting CNVs, discusses their characteristics, and highlights recent advances in molecular diagnostic methods and computational methods.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Ioana Streata, Alexandru Caramizaru, Anca-Lelia Riza, Simona Serban-Sosoi, Andrei Pirvu, Monica-Laura Cara, Mihai-Gabriel Cucu, Amelia Mihaela Dobrescu, Elena-Silvia Shelby, Adriana Albeanu, Florin Burada, Mihai Ioana
Summary: The study aims to explore the role of chromosome microarray analysis (CMA) in identifying the genetic causes of unexplained global developmental delay (GDD)/intellectual disability (ID). The study found that pathogenic copy number variations (pCNVs) contribute significantly to the genetic causes of GDD/ID. CMA can be effective in evaluating GDD/ID with uncertain etiology, especially in patients with associated comorbidities.
Article
Medical Laboratory Technology
Yunyun Zheng, Jia Li, Jianfang Zhang, Hong Yang
Summary: This study evaluated the accuracy and feasibility of noninvasive prenatal testing (NIPT) according to different indications. The results showed that NIPT has high accuracy and specificity, and is effective in preventing birth defects, but cannot replace prenatal diagnosis.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2022)