Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family
Copy number variants are a substantial source of pathogenic or normal genome variations. Chromosomal imbalances of several megabasepair are normally harmful for the affected person. Still, rarely reported are ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 1, 2022 Category: Molecular Biology Authors: Juan Chen, Ying Zhang and Mingxi Zhang Tags: Case Report Source Type: research
Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening
So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 1, 2022 Category: Molecular Biology Authors: Junjie Hu, Kai Yan, Pengzhen Jin, Yanmei Yang, Yixi Sun and Minyue Dong Tags: Case Report Source Type: research
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes
Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 21, 2022 Category: Molecular Biology Authors: Yan Luo, Hezhen Lu, Yanshang Zhang, Zhiqiang Cui, Pingping Zhang and Yali Li Tags: Case Report Source Type: research
Svetlana G. Vorsanova (1945 –2021)
(Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 19, 2022 Category: Molecular Biology Authors: Ivan Y. Iourov Tags: Obituary Source Type: research
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?
Non-invasive prenatal testing (NIPT) has had an incomparable triumph in prenatal diagnostics in the last decade. Over 1400 research articles have been published, predominantly praising the advantages of this t... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 19, 2022 Category: Molecular Biology Authors: Thomas Liehr Tags: Research Source Type: research
Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family
Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected. Copy number variants (CNVs) are an importan... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 15, 2022 Category: Molecular Biology Authors: Ying Zhang, Juan Chen, Zonghui Feng and Wencheng Li Tags: Research Source Type: research
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 5, 2022 Category: Molecular Biology Authors: Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin and Hakon Hakonarson Tags: Research Source Type: research
Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y
The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 4, 2022 Category: Molecular Biology Authors: Yiqun He, Li Guo, Laiping Zheng, Congmian Ren, Ting Wang and Jian Lu Tags: Research Source Type: research
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview
Partial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is extremely rare. Here, we report two new unrelated cases of partial tr... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 28, 2022 Category: Molecular Biology Authors: Jianlong Zhuang, Chunnuan Chen, Hegan Zhang, Wanyu Fu, Yanqing Li, Yuying Jiang, Shuhong Zeng, Xiaoxia Wu, Yingjun Xie and Gaoxiong Wang Tags: Research Source Type: research
21q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review
21q22 amplification is a rare cytogenetic aberration in acute myeloid leukemia (AML). So far, the cytogenomic and molecular features and clinical correlation of 21q22 amplification in AML have not been well-ch... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 7, 2022 Category: Molecular Biology Authors: Emily M. Kudalkar, Changlee Pang, Mary M. Haag, Daniel A. Pollyea, Manali Kamdar, Gang Xu, Meng Su, Billie Carstens, Karen Swisshelm and Liming Bao Tags: Case Report Source Type: research
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
Since 2011, noninvasive prenatal testing (NIPT) has undergone rapid expansion, with both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this testing tool are ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 6, 2022 Category: Molecular Biology Authors: Siping Liu, Fang Yang, Qingxian Chang, Bei Jia, Yushuang Xu, Ruifeng Wu, Liyan Li, Weishan Chen, Ailan Yin, Fodi Huang, Suxin Feng and Fenxia Li Tags: Research Source Type: research
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family
Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental r... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - July 4, 2022 Category: Molecular Biology Authors: Wenjuan Tang, Guowei Chen, Jingshu Xia and Ying Zhang Tags: Research Source Type: research
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microa... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 28, 2022 Category: Molecular Biology Authors: Ruibin Huang, Hang Zhou, Fang Fu, Ru Li, Tingying Lei, Yingsi Li, Ken Cheng, You Wang, Xin Yang, Lushan Li, Xiangyi Jing, Yongling Zhang, Fucheng Li, Dongzhi Li and Can Liao Tags: Research Source Type: research
Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review
Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability and psychomotor growth. Female patients carrying monosomy Xq u... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 27, 2022 Category: Molecular Biology Authors: Qiong Wu, Hui Kong, Yanyan Shen and Jing Chen Tags: Research Source Type: research
Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report
Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. At ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - June 27, 2022 Category: Molecular Biology Authors: Can Peng, SiYuan LinPeng, Xiufen Bu, XuanYu Jiang, LanPing Hu, Jun He and ShiHao Zhou Tags: Case Report Source Type: research
