18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature
Deletions involving the long arm of chromosome 18 have been associated with a highly variable phenotypic spectrum that is related to the extent of the deleted region. Duplications in chromosomal region 4p16.3 ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 19, 2018 Category: Molecular Biology Authors: Chunjing Wang, Huanhuan Ren, Huaifu Dong, Meng Liang, Qi Wu and Yaping Liao Tags: Case Report Source Type: research
Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations ass... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - October 19, 2018 Category: Molecular Biology Authors: Vanessa Fiorini Furtado, Neeraj Y. Saini, William Walsh, Venu Bathini and Patricia M. Miron Tags: Letter to Editor Source Type: research
Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeleti... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 24, 2018 Category: Molecular Biology Authors: Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan and Murat Erdogan Tags: Research Source Type: research
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature
The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retard... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 19, 2018 Category: Molecular Biology Authors: Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo and Palma Finelli Tags: Case Report Source Type: research
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases
Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 6, 2018 Category: Molecular Biology Authors: Donatella Conconi, Nicoletta Villa, Serena Redaelli, Elena Sala, Francesca Crosti, Silva Maitz, Miriam Rigoldi, Rossella Parini, Leda Dalpr à, Marialuisa Lavitrano and Gaia Roversi Tags: Case Report Source Type: research
Chromosomes of Asian cyprinid fishes: cytogenetic analysis of two representatives of small paleotetraploid tribe Probarbini
Polyploidy, although still poorly explored, represents an important evolutionary event in several cyprinid clades. Herein, Catlocarpio siamensis and Probarbus jullieni - representatives of the paleotetraploid tri... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - September 4, 2018 Category: Molecular Biology Authors: Pasakorn Saenjundaeng, Marcelo de Bello Cioffi, Ezequiel Aguiar de Oliveira, Alongklod Tanomtong, Weerayuth Supiwong, Sumalee Phimphan, Maria Jo ão Collares-Pereira, Alexandr Sember, Luiz Antonio Carlos Bertollo, Thomas Liehr, Cassia Fernanda Yano, Terum Tags: Research Source Type: research
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
Complex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial inheritance of complex chromosomal structural al... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 28, 2018 Category: Molecular Biology Authors: Peter J. B. Sabatini, Resham Ejaz, Dimitri J. Stavropoulos, Roberto Mendoza-Londono and Ann M. Joseph-George Tags: Case Report Source Type: research
Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform
Non-invasive prenatal testing (NIPT) is frequently being used to screen for trisomies 13, 18 and 21 for prenatal diagnosis. However, NIPT performs poorly when compared with invasive testing and thus should not... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 25, 2018 Category: Molecular Biology Authors: Yuan Tian, Linlin Zhang, Weifang Tian, Jinshuang Gao, Liting Jia and Shihong Cui Tags: Research Source Type: research
Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies
Cell-free fetal DNA in maternal plasma represents a source of fetal genetic material that can be sampled noninvasively. There are ample studies confirming the accuracy of NIPT in singleton pregnancies, but the... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 22, 2018 Category: Molecular Biology Authors: Jiexia Yang, Yiming Qi, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, O. Y. Haoxin, Yixia Wang, Huajie Huang and Aihua Yin Tags: Research Source Type: research
CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study
In this study,... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 22, 2018 Category: Molecular Biology Authors: Mary Garc ía-Acero, Fernando Suárez-Obando and Alberto Gómez-Gutiérrez Tags: Research Source Type: research
Recombinant chromosome 4 in two fetuses - case report and literature review
Recombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a total of 18 cases of rec (4) syndrome we... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 22, 2018 Category: Molecular Biology Authors: Yi Wu, Yanlin Wang, Shi Wu Wen, Xinrong Zhao, Wenjing Hu, Chunmin Liu, Li Gao, Yan Zhang, Shan Wang, Xingyu Yang, Biwei He and Weiwei Cheng Tags: Review Source Type: research
Application of chromosomal microarray analysis in products of miscarriage
Chromosomal abnormality is one of the major cause of spontaneous abortion. Most available guidelines suggest genetic testing after three miscarriages, which has been proved to be difficult to adhere to and som... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 17, 2018 Category: Molecular Biology Authors: Xiangyu Zhu, Jie Li, Yujie Zhu, Wanjun Wang, Xing Wu, Ying Yang, Leilei Gu, Yuanyuan Gu and Yali Hu Tags: Research Source Type: research
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 17, 2018 Category: Molecular Biology Authors: Birsen Karaman, H ülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu and Seher Basaran Tags: Research Source Type: research
Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies
The clinical features of Down syndrome vary among individuals, with those most common being congenital heart disease, intellectual disability, developmental abnormity and dysmorphic features. Complex combinati... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 10, 2018 Category: Molecular Biology Authors: Wenfu Li, Xianfu Wang and Shibo Li Tags: Research Source Type: research
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
Partial monosomy 21 is a rare finding with variable sizes and deletion breakpoints, presenting with a broad spectrum of phenotypes. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - August 1, 2018 Category: Molecular Biology Authors: Meng Su, Paul J. Benke, Guney Bademci, Filiz Basak Cengiz, Xiaomei Ouyang, Jinghong Peng, Carmen E. Casas, Mustafa Tekin and Yao-Shan Fan Tags: Case Report Source Type: research
