Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be ass... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 27, 2019 Category: Molecular Biology Authors: Chen-Zhao Lin, Bi-Ru Qi, Jian-Su Hu, Yu-Dian Huang and Xiu-Qiong Huang Tags: Case Report Source Type: research
Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas
Meningiomas are among the most frequent intracranial tumors. Although the majority of meningiomas can be cured by surgical resection, up to 20% of the patients develop an aggressive clinical course with tumor ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 24, 2019 Category: Molecular Biology Authors: Sina Hemmer, Steffi Urbschat, Joachim Oertel and Ralf Ketter Tags: Research Source Type: research
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deleti... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 18, 2019 Category: Molecular Biology Authors: Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak and Namik Kaya Tags: Short report Source Type: research
Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
Copy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion of the 17q12 chromosome results in structural or functional abnormalities in the kidn... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 17, 2019 Category: Molecular Biology Authors: Shanning Wan, Yunyun Zheng, Yinghui Dang, Tingting Song, Biliang Chen and Jianfang Zhang Tags: Case Report Source Type: research
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature
There are only ten reported cases of interstitial deletions involving cytogenetic bands 10q21.3q22.2 in the literature. Of the ten patients with overlapping 10q21.3q22.2 interstitial deletions, only nine have ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 17, 2019 Category: Molecular Biology Authors: John C. Herriges, Sarah L. Dugan and Allen N. Lamb Tags: Case Report Source Type: research
Analysis of copy number variations induced by ultrashort electron beam radiation in human leukocytes in vitro
Environmental risk factors have been shown to alter DNA copy number variations (CNVs). Recently, CNVs have been described to arise after low-dose ionizing radiation in vitro and in vivo. Development of cost- a... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 16, 2019 Category: Molecular Biology Authors: Tigran Harutyunyan, Galina Hovhannisyan, Anzhela Sargsyan, Bagrat Grigoryan, Ahmed H. Al-Rikabi, Anja Weise, Thomas Liehr and Rouben Aroutiounian Tags: Research Source Type: research
The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity
Many cancers possess an incorrect number of chromosomes, a state described as aneuploidy. Aneuploidy is often caused by Chromosomal Instability (CIN), a process of continuous chromosome mis-segregation. CIN is... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - May 14, 2019 Category: Molecular Biology Authors: Andr éa E. Tijhuis, Sarah C. Johnson and Sarah E. McClelland Tags: Review Source Type: research
Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability
Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 17, 2019 Category: Molecular Biology Authors: Xiaofei Cheng, Qifang Yang, Jun Liu, Juan Ye, Huiying Xiao, Gaimei Zhang, Yuanyuan Pan, Xia Li, Ruifeng Hao and Yinfeng Li Tags: Case Report Source Type: research
The karyotype of Aegilops geniculata and its use to identify both addition and substitution lines of wheat
The annual allotetraploid species Aegilops geniculata harbors a number of traits relevant for wheat improvement. An effective cytogenetic method has yet to be developed to distinguish between each of its 14 chrom... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - April 2, 2019 Category: Molecular Biology Authors: Yingjin Yi, Ke Zheng, Shunzong Ning, Laibin Zhao, Kai Xu, Ming Hao, Lianquan Zhang, Zhongwei Yuan and Dengcai Liu Tags: Research Source Type: research
Cell maps on the human genome
We have previously described evidence for a statistically significant, global, supra-chromosomal representation of the human body that appears to stretch over the entire genome. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 20, 2019 Category: Molecular Biology Authors: Christopher Cherniak and Raul Rodriguez-Esteban Tags: Research Source Type: research
Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis
This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 11, 2019 Category: Molecular Biology Authors: Huili Xue, Hailong Huang, Yan Wang, Gang An, Min Zhang, Liangpu Xu and Yuan Lin Tags: Research Source Type: research
Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series
Regions of homozygosity (ROH) are continuous homozygous segments commonly seen in the human genome. The integration of single nucleotide polymorphism (SNP) probes into current array comparative genomic hybridi... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 6, 2019 Category: Molecular Biology Authors: Jiadi Wen, Kathleen Comerford, Zhiyong Xu, Weiqing Wu, Katherine Amato, Brittany Grommisch, Autumn DiAdamo, Fang Xu, Hongyan Chai and Peining Li Tags: Research Source Type: research
Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations
To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether an... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 26, 2019 Category: Molecular Biology Authors: Jie Wang, Dong Li, Zhipeng Xu, Zhenyu Diao, Jianjun Zhou, Fei Lin and Ningyuan Zhang Tags: Research Source Type: research
Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women
Conventional cytogenetic analysis using G-band karyotyping has been the method of choice for prenatal diagnosis, accurately detecting chromosomal abnormalities larger than 5 Mb. However, the method is ineffici... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 26, 2019 Category: Molecular Biology Authors: Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee and Doyeong Hwang Tags: Research Source Type: research
Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis
This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs ™) assay and conventional karyotyping for the prenatal detection of chromoso... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 22, 2019 Category: Molecular Biology Authors: Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang and Luming Wang Tags: Research Source Type: research
