Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies. by Shaozhe Yang, Yuan Zhuang, Junfeng Li, Xiuhong Fu

“…The positive predictive value (PPV), sensitivity, specificity, and other indicators for different types of chromosomal abnormalities in NIPT/NIPT-plus screening were calculated. …”
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Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies by Jin Wang, Danni Wang, Yan Yin, Yi Deng, Mengling Ye, Ping Wei, Zhuo Zhang, Chun Chen, Shengfang Qin, Xueyan Wang

“…A combination of karyotype analysis and CMA can increase the detection rate of chromosome abnormalities and make up for the limitation of signal detection.…”
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Promoter Methylation Precedes Chromosomal Alterations in Colorectal Cancer Development by Sarah Derks, Cindy Postma, Peter T. M. Moerkerk, Sandra M. van den Bosch, Beatriz Carvalho, Mario A. J. A. Hermsen, Walter Giaretti, James G. Herman, Matty P. Weijenberg, Adriaan P. de Bruïne, Gerrit A. Meijer, Manon van Engeland

“…P53 immunopositivity and chromosomal abnormalities occur predominantly in carcinomas (P values: 1.1×10−5 and 4.1×10−10). …”
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Synchronous clonally related anaplastic large cell lymphoma and malignant histiocytosis by Mirvate Harb, Tom Abrassart, Laurent Dewispeleare, Pierre Sidon, Natacha Dirckx, Anne-laure Trepant, Julie Castiaux, Pierre Heimann, Jean-Francois Emile, Hussein Farhat

“…However, these two cells populations shared common chromosomal abnormalities. First line treatment protocol included Brentuximab vedotin, cyclophosphamide, doxorubicin, and methylprednisolone. …”
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Pathobiology of Anaplastic Large Cell Lymphoma by Pier Paolo Piccaluga, Anna Gazzola, Claudia Mannu, Claudio Agostinelli, Francesco Bacci, Elena Sabattini, Carlo Sagramoso, Roberto Piva, Fernando Roncolato, Giorgio Inghirami, Stefano A. Pileri

“…The phenotype is reported in detail: the expression of the ALK protein as well as the chromosomal abnormalities is discussed with their potential pathogenetic implications. …”
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Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia by Aristides Armas, Chen Chen, Martha Mims, Gustavo Rivero

“…The functional role for infrequent cytogenetic alteration remains unclear. An uncommon chromosomic abnormality is the presence of the Philadelphia (Ph) chromosome. …”
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The Analysis of the Fetal Abdominal Wall and Gastrointestinal Tract Abnormalities in a Single Tertiary Center by Gokhan Bolluk, Suleyman Cemil Oglak, Merih Cetinkaya, Isil Turan Bakirci, Oyhan Demirali, Mehmet Cok, Handan Turhan Karakus, Yasin Onur, Emine Zeynep Yilmaz

“…While genetic testing was carried out in 18 cases (27%), chromosomal abnormality was found in 6 (9.0%) cases. Termination of pregnancy was performed in 6 cases (9.0%). …”
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A Case of False Negative NIPT for Down Syndrome-Lessons Learned by Meagan Smith, Kimberly M. Lewis, Alexandrea Holmes, Jeannie Visootsak

“…Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. …”
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Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway by Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, Chunnuan Chen

“…Karyotype analysis and chromosomal microarray analysis (CMA) were conducted to identify chromosomal abnormalities. Whole exome sequencing (WES) was utilized to investigate sequence variants, while RNA sequencing assessed differentially expressed genes, with findings confirmed through quantitative PCR (qPCR). …”
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Early Morphokinetic Monitoring of Embryos after Intracytoplasmic Sperm Injection with Fresh Ejaculate Sperm in Nonmosaic Klinefelter Syndrome: A Different Presentation by Ali Sami Gurbuz, Ahmet Salvarci, Necati Ozcimen, Ayse Gul Zamani

“…Biopsies were performed on six embryos on the 3rd day, and numerical chromosomal abnormalities were observed using the FISH test before transfer. …”
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A Case Report of a Patient with Turner Syndrome, Multiple Comorbidities, and Pustular Psoriasis: Correlation or Coincidence? by Andjela Egger, Andrea Maderal, Hadar Lev-Tov, Olivera Stojadinovic

“…Turner syndrome (TS) is one of the most common chromosomal abnormalities. Patients with TS are at an increased risk for the development of metabolic syndrome, hypertension (HTN), diabetes mellitus type II (DM2), hyperlipidemia (HLD), obesity, and cardiovascular disease. …”
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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

“…One of the rare chromosomal abnormalities is a dicentric chromosome, which is defined as an aberrant chromosome having two centromeres. …”
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A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate by Regina Ferreira Rezek, Ana Angélica Rodrigues Abbas, Juliana Forte Mazzeu, Siliana Maria Duarte Miranda, Cibele Velloso-Rodrigues

“…G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. …”
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Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review by Karpagavalli Shanmugasundaram, V. K. Vaishnavi Vedam, Sivadas Ganapathy, Sivan Sathish, Parvathi Satti

“…Multiple tissue involvement has resulted due to etiological heterogeneity like heredity, chromosomal abnormalities, altered intrauterine environment, and endocrine dysfunctions. …”
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Artemisinin-Based Combination Therapy Depressed Mitosis and Induced Chromosome Aberration in Onion Root Cells by J. I. Raji, C. K. Onwuamah, P. G. C. Odeigah

“…This study showed that DHAP can depress mitosis and induce chromosome abnormalities. Their accumulation in cells may be inhibitory to cell division and growth. …”
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Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome by Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Brígida Robalo, Carla Pereira, Maria Lurdes Sampaio

“…Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males. …”
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Molecular landscape of lung cancer: insights into therapeutic targets and clinical outcomes by Saloni Mangal, Abhijit Debnath, Rupa Mazumder, Avijit Mazumder, Rajesh Kumar Singh, Jahanvi Sanchitra, S.K. Asif Jan, Pratibha Pandey, Bimlesh Kumar, Anil Kumar Singh

“…Genetic mutations, chromosomal abnormalities, transcription factors, mutations in tumor suppressor genes, and mutations in oncogenes have all been associated with an increased risk of LC development. …”
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Molecular, Cytogenetic, and Hematological Analysis of Chronic Myeloid Leukemia Patients and Discovery of Two Novel Translocations by Muhammad Asif, Abrar Hussain, Abdul Wali, Nazeer Ahmed, Irfan Ali, Zafar Iqbal, Muhammad Amir, Muhammad Shafiq, Mahmood Rasool

“…Cytogenetic results show that standard translocation was developed in 63 (82.89%), development of complex variant translocations in 4 (5.32%), additional chromosomal abnormalities (ACAs) in 3 (3.94%), and ACAs together with complex variant translocations in 1 (1.31%) patient. …”
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Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype by Sigin George, Vikas Karamchand Dagar, N. Nagaraja, Barun Kumar Chakrabarty

“…Turner syndrome (TS) is the most frequently detected chromosomal abnormality in females caused by the partial or complete absence of second X chromosome. …”
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Cytogenetic Evolution of Human Ovarian Cell Lines Associated with Chemoresistance and Loss of Tumorigenicity by Stéphanie Struski, Martine Doco‐Fenzy, Michael Koehler, Ilse Chudoba, Francis Levy, Linda Masson, Nicole Michel, Evelyne Ulrich, Nadine Gruson, Jean Bénard, Gérard Potron, Pascale Cornillet‐Lefebvre

“…The drug‐resistant subcell lines displayed many chromosomal abnormalities suggesting the implication of different pathways leading to a multidrug resistance phenotype. …”
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