Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
Non-invasive prenatal testing (NIPT) using cell-free DNA has been widely used for prenatal screening to detect the common fetal aneuploidies (such as trisomy 21, 18, and 13). NIPT has been shown to be highly s... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 14, 2023 Category: Molecular Biology Authors: Qinfei Zhao, Jing Chen, Ling Ren, Huijuan Zhang, Dedong Liu, Xuxiang Xi, Xiangsheng Wu, Chunyun Fang, Ping Ye, Shaoying Zeng and Tianyu Zhong Tags: Case Report Source Type: research
17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Copy number variants (CNVs) have been identified as common genomic variants that play a significant role in inter-individual variability. Conversely, rare recurrent CNVs have been found to be causal for many d... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 10, 2023 Category: Molecular Biology Authors: Nikhil Shri Sahajpal, David H. F. Jeffrey, Barbara R. DuPont and Benjamin Hilton Tags: Research Source Type: research
Genome-wide detection of CNV regions between Anqing six-end-white and Duroc pigs
Anqing six-end-white pig is a native breed in Anhui Province. The pigs have the disadvantages of a slow growth rate, low proportion of lean meat, and thick back fat, but feature the advantages of strong stress... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 3, 2023 Category: Molecular Biology Authors: Rong Qian, Fei Xie, Wei Zhang, JuanJuan Kong, Xueli Zhou, Chonglong Wang and Xiaojin Li Tags: Research Source Type: research
Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent. This ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 3, 2023 Category: Molecular Biology Authors: Lili Zhou, Huanzheng Li, Chenyang Xu, Xueqin Xu, Zhaoke Zheng and Shaohua Tang Tags: Research Source Type: research
BCR::ABL1-like acute lymphoblastic leukaemia: a single institution experience on identification of potentially therapeutic targetable cases
BCR::ABL1-like acute lymphoblastic leukaemia (BCR::ABL1-like ALL) is characterized by inferior outcomes. Current efforts concentrate on the identification of molecular targets to improve the therapy results. The ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 3, 2023 Category: Molecular Biology Authors: Anna P łotka, Anna Przybyłowicz-Chalecka, Maria Korolczuk, Zuzanna Kanduła, Błażej Ratajczak, Jolanta Kiernicka-Parulska, Anna Mierzwa, Katarzyna Godziewska, Małgorzata Jarmuż-Szymczak, Lidia Gil and Krzysztof Lewandowski Tags: Research Source Type: research
Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype –phenotype correlations
Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes co... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 11, 2023 Category: Molecular Biology Authors: Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li and Ying Yang Tags: Case Report Source Type: research
Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray
Noninvasive prenatal testing (NIPT) allows for screening of fetal aneuploidy and copy number variants (CNVs) from cell-free DNA (cfDNA) in maternal plasma. Professional societies have not yet embraced NIPT for... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 10, 2023 Category: Molecular Biology Authors: Erica Soster, John Tynan, Clare Gibbons, Wendy Meschino, Jenna Wardrop, Eyad Almasri, Stuart Schwartz and Graham McLennan Tags: Research Source Type: research
Preimplantation genetic testing for Aicardi –Goutières syndrome induced by novel compound heterozygous mutations of TREX1: an unaffected live birth
Aicardi –Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. It is characterized mainly by early onset progressive encephalopathy, concomitant with an increase in int... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 5, 2023 Category: Molecular Biology Authors: Huiling Xu, Jiajie Pu, Suiling Lin, Rui Hu, Jilong Yao and Xuemei Li Tags: Case Report Source Type: research
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most H... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 22, 2023 Category: Molecular Biology Authors: Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles and Carolina Sismani Tags: Case Report Source Type: research
Comprehensive analysis of three female patients with different types of X/Y translocations and literature review
X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 18, 2023 Category: Molecular Biology Authors: Shanquan Liu, Jiemei Zheng, Xijing Liu, Yi Lai, Xuan Zhang, Tiantian He, Yan Yang, He Wang and Xuemei Zhang Tags: Research Source Type: research
Population monitoring of trisomy 21: problems and approaches
Trisomy 21 (Down syndrome) is the most common autosomal aneuploidy among newborns. About 90% result from meiotic nondisjunction during oogenesis, which occurs around conception, when also the most profound epi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 14, 2023 Category: Molecular Biology Authors: Karl Sperling, Hagen Scherb and Heidemarie Neitzel Tags: Review Source Type: research
Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
Optical genome mapping (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex chromosomal rearrangements (CCRs) and cryptic translocations are rare... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 26, 2023 Category: Molecular Biology Authors: Shanshan Shi, Peizhi Huang, Ruiling Yan and Ruiman Li Tags: Research Source Type: research
Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China
There are a few studies on the chromosomal aberration of Ultrasound soft markers (USMs). The aim of this study was to determine the detection rate of clinically significant chromosomal abnormalities (CSCA) in ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 10, 2023 Category: Molecular Biology Authors: Yanhong Zhou, Siqi Wu, Jin Han, Li Zhen, Xin Yang, Ru Li, Yongling Zhang, Xiangyi Jing, Fucheng Li and Huishu Liu Tags: Research Source Type: research
Cytogenetic culture failure and its causes in hematological disorders; a single centre perspective
To highlight the reasons of culture failure in bone marrow aspirate samples sent for Cytogenetic analysis and to identify the associated parameters causing this impact. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 10, 2023 Category: Molecular Biology Authors: Sarah Javed, Jawad Hassan, Maliha Naz, Saira Shan, Madiha Abid and Tahir Sultan Shamsi Tags: Research Source Type: research
Frequent copy number variants in a cohort of Mexican-Mestizo individuals
The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 12, 2023 Category: Molecular Biology Authors: Silvia S ánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayen, Camilo Villarroel, Esther Lieberman, Emiy Yokoyama, Victoria D Tags: Research Source Type: research
