A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 21, 2019 Category: Molecular Biology Authors: Ganye Zhao, Peng Dai, Shanshan Gao, Xuechao Zhao, Conghui Wang, Lina Liu and Xiangdong Kong Tags: Case Report Source Type: research
A novel 14q13.1 –21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2 –1, PAX9 we... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 19, 2019 Category: Molecular Biology Authors: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu and Chanjuan Hao Tags: Case Report Source Type: research
The variome concept: focus on CNVariome
Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 19, 2019 Category: Molecular Biology Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov Tags: Hypothesis Source Type: research
A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication
Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of C... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 11, 2019 Category: Molecular Biology Authors: Jianlong Zhuang, Yuanbai Wang, Shuhong Zeng, Chunling Lv, Yiming Lin and Yuying Jiang Tags: Research Source Type: research
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe p... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 9, 2019 Category: Molecular Biology Authors: Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo and Zailong Qin Tags: Case Report Source Type: research
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 21, 2019 Category: Molecular Biology Authors: George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Da Tags: Research Source Type: research
Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation
Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) tha... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 19, 2019 Category: Molecular Biology Authors: Ina Lee, Mary A. Gudipati, Elizabeth Waters, Vu H. Duong, Maria R. Baer and Ying Zou Tags: Case Report Source Type: research
Nonclonal chromosomal alterations and poor survival in cytopenic patients without hematological malignancies
Clonal chromosomal alterations (CCAs) reflect recurrent genetic changes derived from a single evolving clone, whereas nonclonal chromosomal alterations (NCCAs) comprise a single or nonrecurrent chromosomal abn... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 12, 2019 Category: Molecular Biology Authors: Osamu Imataki, Hiroyuki Kubo, Akihiro Takeuchi, Makiko Uemura and Norimitsu Kadowaki Tags: Research Source Type: research
Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China
Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal pr... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 6, 2019 Category: Molecular Biology Authors: Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu and Ruixue Wang Tags: Research Source Type: research
Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review
This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application o... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 4, 2019 Category: Molecular Biology Authors: Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu and Ruixue Wang Tags: Case Report Source Type: research
Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis
Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastro... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 31, 2019 Category: Molecular Biology Authors: Mary A. Gudipati, Elizabeth Waters, Carol Greene, Nidhi Goel, Nicole L. Hoppman, Beth A. Pitel, Matthew R. Webley and Ying Zou Tags: Case Report Source Type: research
Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population
Childhood Acute Leukemia (AL) is characterized by recurrent genetic aberrations in 60% of AML cases and 90% of ALL cases. Insufficient data exists of rare cytogenetic abnormalities in AL. Therefore, we tested ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 11, 2019 Category: Molecular Biology Authors: Nawaf Alkhayat, Ghaleb Elyamany, Yasser Elborai, Qanita Sedick, Mohammad Alshahrani, Omar Al Sharif, Abdulmalik Alenezy, Amjad Hammdan, Hatem Elghezal, Omar Alsuhaibani, Mansour S. Aljabry, May AlMoshary and Eman Al Mussaed Tags: Research Source Type: research
C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis
In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms. Therefore, conven... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 18, 2019 Category: Molecular Biology Authors: Jian Jiang Zhu, Hong Qi, Li Rong Cai, Xiao Hui Wen, Wen Zeng, Guo Dong Tang, Yao Luo, Ran Meng, Xue Qun Mao and Shao Qin Zhang Tags: Research Source Type: research
Genetic analysis of products of conception using a HLPA/SNP-array strategy
Fetal chromosomal abnormalities was the most frequent cause of miscarriage, and the traditional testing method G-banded karyotyping has limitations. Then high-throughput ligation-dependent probe amplification ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 2, 2019 Category: Molecular Biology Authors: Jun Mao, Huiling Wang, Haibo Li, Xiaoyan Song, Ting Wang, Jingjing Xiang and Hong Li Tags: Research Source Type: research
Non-invasive prenatal testing reveals copy number variations related to pregnancy complications
Pregnancy complications could lead to maternal and fetal morbidity and mortality. Early diagnosing and managing complications have been associated with good outcomes. The placenta was an important organ for de... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 30, 2019 Category: Molecular Biology Authors: Guangping Wu, Rong Li, Chao Tong, Miaonan He, Zhiwei Qi, Huijuan Chen, Tao Deng, Hailiang Liu and Hongbo Qi Tags: Research Source Type: research
