Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14) by Hanane Latrech, Houssein Madar, Ahmed Gaouzi

“…Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. …”
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Differential Expression of Placental Glucocorticoid Receptors and Growth Arrest-Specific Transcript 5 in Term and Preterm Pregnancies: Evidence for Involvement of Maternal Stress by D. Mparmpakas, E. Zachariades, G. Sotiriadis, A. Goumenou, A. J. Harvey, Y. Gidron, E. Karteris

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A New Case of dic(1;15)(p11;p11) in AML M1: Apropos of a Case and a Review of the Literature by Deniz Gören Şahin, Beyhan Durak, Eren Gündüz, Sevilhan Artan, Olga Meltem Akay

“…Specific cytogenetic abnormalities have been identified by karyotype analysis in AML. One of the rare chromosomal abnormalities is a dicentric chromosome, which is defined as an aberrant chromosome having two centromeres. …”
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Genotyping of hexaploid wheat varieties from different Russian regions by I. G. Adonina, I. N. Leonova, E. D. Badaeva, E. A. Salina

“…Comparative analysis of individual dendrograms constructed using 1–2 markers per chromosome, and with the involvement of a larger number of 5B-chromosome markers allowed us to identify varieties with rearrangements of this chromosome and to assess genetic diversity. …”
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No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome by Chariyawan Charalsawadi, Sasipong Trongnit, Kanoot Jaruthamsophon, Juthamas Wirojanan, Somchit Jaruratanasirikul, Anupong Nitiruangjaras, Pornprot Limprasert

“…SNP microarray revealed nonmosaic gain of the short arm of chromosome 9. A nonmosaic isodicentric chromosome 9 was identified in the peripheral blood but this rearranged chromosome was detected in only 8.3% of the skin fibroblasts. …”
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SMC translocation is unaffected by an excess of nucleoid associated proteins in vivo by Zhongqing Ren, Lindsey E. Way, Xindan Wang

“…Abstract Genome organization is important for DNA replication, gene expression, and chromosome segregation. In bacteria, two large families of proteins, nucleoid-associated proteins (NAPs) and SMC complexes, play important roles in organizing the genome. …”
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Mouse ZGRF1 helicase facilitates DNA repair and maintains efficient fertility by Ernest Wee Kiat Lim, Smaragda Kompocholi, André Brannvoll, K. Stine V. Bagge, Jennifer R. Gruhn, Javier Martin-Gonzalez, Eliene Albers, Ian D. Hickson, Andrés López-Contreras, Michael Lisby

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SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease by J. M. Ramirez, F. A. Rodríguez, M. I. Echeverría, A. L. Vargas, A. E. Calderón, R. M. Miatello, N. F. Renna

“…The anomalies of X chromosome are classified as numerical or structural. …”
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Prenatal Diagnosis of Triploidy. Case Report and Literature Review by Pedro Alí Díaz-Véliz Jiménez, Belkis del Carmen Vidal Hernández, Iliana González Santana

“…Triploidy is a lethal numerical chromosomal alteration characterized by an additional haploid chromosomal complement, 99.9 % of these are lost between the first and second trimesters of pregnancy and 15 % of fetuses end in spontaneous abortions before 20 weeks. …”
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A first study on sperm sexing in water buffalo through magnetic nanoparticles by Syed Murtaza Hassan Andrabi, Muhammad Hammad Fayyaz, Muhammad Shafiq Haider, Ghulam Muhammad Ali

“…Therefore, the Y chromosome-bearing spermatozoa remained closer to MNPs. …”
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A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening by Melissa A. Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim

“…Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. …”
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High-Risk Microgranular Acute Promyelocytic Leukemia with a Five-Way Complex Translocation Involving PML-RARA by Benjamin Powers, Diane Persons, Deepthi Rao, Janet Woodroof, Tara L. Lin

“…Acute promyelocytic leukemia (APL) is classically characterized by chromosomal translocation (15;17), resulting in the PML-RARA fusion protein leading to disease. …”
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A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities by Shalinder Singh, Fern Ashton, Renate Marquis-Nicholson, Jennifer M. Love, Chuan-Ching Lan, Salim Aftimos, Alice M. George, Donald R. Love

“…Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. …”
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Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3) by Norma Elena de León Ojeda, Michel Soriano-Torres, Mercedes J. Cabrera, Dunia Bárbara Benítez Ramos

“…We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. …”
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From DNA Radiation Damage to Cell Death: Theoretical Approaches by Francesca Ballarini

“…Furthermore, a mechanistic model developed at the University of Pavia and based on the relationship between cell inactivation and chromosome aberrations was presented, together with recent results; the good agreement between model predictions and literature experimental data on different radiation types (photons, protons, alpha particles, and Carbon ions) supported the idea that asymmetric chromosome aberrations like dicentrics and rings play a fundamental role for cell death. …”
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Aneuploidy Mechanisms in Human Colorectal Preneoplastic Lesions and Barrett’s Esophagus. Is There a Role for K-Ras and p53 Mutations? by Walter Giaretti

“…These data and data from experiments using in vitro and mouse models, suggest that chromosome instability, tetraploidization, and asymmetrical chromosome segregation during cell division are the result of deregulated cell cycle genes with multiple functions that normally exert active checks on the cell cycle processes including apoptosis and chromosome stability.…”
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Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay by Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

“…Abstract Background Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. …”
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Recent Advances in the Pathogenesis of Syndromic Autisms by A. Benvenuto, B. Manzi, R. Alessandrelli, C. Galasso, P. Curatolo

“…The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” …”
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A noncanonical role of roX RNAs in autosomal epigenetic repression by Jianjian Li, Shuyang Xu, Zicong Liu, Liuyi Yang, Zhe Ming, Rui Zhang, Wenjuan Zhao, Huipai Peng, Jeffrey J. Quinn, Manyin Wu, Yushan Geng, Yuying Zhang, Jiazhi He, Minghai Chen, Nan Li, Ning-Yi Shao, Qing Ma

“…We observed that roX RNAs colocalize with MSL proteins on the X chromosome and PRC components on autosomes. Intriguingly, loss of roX function reduces X-chromosomal H4K16ac levels and autosomal H3K27me3 levels. …”
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GENETIC CONTROL OF ANTHOCYANIN COLORATION IN RYE by A. V. Voylokov, A. N. Lykholay, V. G. Smirnov

“…Of them, only vi1 was localized and mapped on chromosome 7R. The dominant Vs gene for purple pericarp was mapped on chromosome 2R, and one of two complementary genes for red leaf auricle R1, on chromosome 5R. …”
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