Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features by Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, Caroline Astbury

“…Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. …”
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The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations by Shaozhe Yang, Yanqi He, Jingshang Lv, Rongxiang Li, Xiuhong Fu

“…The performance indicators of the positive predictive value (PPV), positive rate (PR), specificity, and sensitivity in screening for common trisomies, sex chromosomal abnormalities (SCAs), rare autosomal aneuploidies (RAAs), and CNVs were calculated. …”
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Pyloric Balloon Dilatation for Delayed Gastric Emptying in Children by DM Israel, G Mahdi, E Hassall

“…Excluded were children with chromosomal abnormalities, neurological disorders and erosive esophagitis. …”
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The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome by Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady

“…Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. …”
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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

“…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. Chromosomal abnormalities were not detected in the pilomatricoma nor expression of beta-catenin or bcl2 proteins in our patient. …”
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Chromosomal Changes in relation to Clinical Outcome in Larynx and Pharynx Squamous Cell Carcinoma by Mario Hermsen, Marta Alonso Guervós, Gerrit Meijer, Paul van Diest, Carlos Suárez Nieto, Cesar Alvarez Marcos, Andrés Sampedro

“…Surprisingly, no specific chromosomal abnormality correlated with disease-free survival. …”
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Automated karyogram analysis for early detection of genetic and neurodegenerative disorders: a hybrid machine learning approach by Sumaira Tabassum, M. Jawad Khan, Javaid Iqbal, Asim Waris, M. Adeel Ijaz

“…However, the unavailability of large datasets, particularly those including samples with chromosomal abnormalities, presents a significant challenge. …”
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Evaluation of Atrioventricular Valve Regurgitation in Detection of Atrioventricular Septal Defects at First Trimester Ultrasound by Zhen Guo, Yang Yan, Yang Zhili, Xiao Juhua, Xiao Xiaojuan, Chen Jia, Luo Haiyan, Zhou Xin

“…This study compares AVVR detection to conventional 2D ultrasound and investigates associations between AVSD and increased nuchal translucency thickness (NT), as well as additional cardiac, extracardiac, and chromosomal abnormalities in the first trimester. Materials and Methods. …”
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Prenatal Cytogenetic Diagnosis in Cienfuegos: Years 2007-2018 by Pedro Alí Díaz-Véliz Jiménez, Belkis Vidal Hernández, Teresa Velázquez Martínez, Yoelkis Sanjurjo Pérez, Iliana González Santana

“…The most frequent chromosomal abnormality was the free trisomy of 21 (45,8 %), the structural aberrations were 21,7 %, the mosaics were 13,3 %, and the most frequent reason for indication among the positive cases was age advanced maternal (45 cases). …”
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Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism by Jonathan Lévy, Jean-Marie Jouannic, Julien Saada, Ferdinand Dhombres, Jean-Pierre Siffroi, Marie-France Portnoï

“…Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. …”
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408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing by Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior

“…There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. …”
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Prenatal Diagnosis of Complete Atrioventricular Septal Defect: Perinatal and Neonatal Outcomes by Gokhan Yıldırım, Kemal Gungorduk, Fehmi Yazıcıoğlu, Ahmet Gul, Fatma Çakar, Özgü Çelikkol, Yavuz Ceylan

“…The purpose of this study was to establish the outlook for fetuses diagnosed with complete atrioventricular septal defect (cAVSD) prenatally and its relation to additional cardiac, extracardiac, and chromosomal abnormalities. Methods. We retrospectively reviewed fetal echocardiograms diagnosed with cAVSD from January 2002 to December 2007, comparing fetuses with and without aneuploidy. …”
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Evaluation of utilization of amplified blastocoel fluid DNA gel electrophoresis band intensity as an additional minimally invasive approach in embryo selection: A cross-sectional s... by Fattaneh Khajehoseini, Zahra Noormohammadi, Poopak Eftekhari-Yazdi, Hamid Gourabi, Reza Pazhoomand, Shirzad Hosseinishenatal, Masood Bazrgar

“…The presence of DNA in the blastocoel cavity of human blastocysts is assumed to be a consequence of common preimplantation chromosomal abnormalities. Objective: This study examined the relationship between the amount of blastocoel fluid (BF) DNA and the band intensity of amplified BF-DNA in gel electrophoresis, considering the influence of ploidy status. …”
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience by Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT

“…Although one fetal death was recorded, no chromosomal abnormality, SLOS, or congenital malformation was recorded in our series. …”
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Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases by Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang

“…Conclusion Prenatal diagnosis for high-risk rare autosomal trisomies typically reveals a normal karyotype with no detectable chromosomal abnormalities, and most cases can achieve full-term pregnancy outcomes. …”
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An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma by Michele Massimino, Elena Tirrò, Stefania Stella, Cristina Tomarchio, Sebastiano Di Bella, Silvia Rita Vitale, Chiara Conti, Marialuisa Puglisi, Rosa Maria Di Crescenzo, Silvia Varricchio, Francesco Merolla, Giuseppe Broggi, Federica Martorana, Alice Turdo, Miriam Gaggianesi, Livia Manzella, Andrea Russo, Giorgio Stassi, Rosario Caltabiano, Stefania Staibano, Paolo Vigneri

“…Methods: Following the findings published by “The Cancer Genome Atlas–UM” (TCGA-UM) study, we developed an NGS-based gene panel (called the UMpanel) that classifies mutation sets in four categories: initiating alterations (<i>CYSLTR2</i>, <i>GNA11</i>, <i>GNAQ</i> and <i>PLCB4</i>), prognostic alterations (<i>BAP1</i>, <i>EIF1AX</i>, <i>SF3B1</i> and <i>SRSF2</i>), emergent biomarkers (<i>CDKN2A</i>, <i>CENPE</i>, <i>FOXO1</i>, <i>HIF1A</i>, <i>RPL5</i> and <i>TP53</i>) and chromosomal abnormalities (imbalances in chromosomes 1, 3 and 8). …”
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Chromothripsis in Treatment Resistance in Multiple Myeloma by Kyoung Joo Lee, Ki Hong Lee, Kyong-Ah Yoon, Ji Yeon Sohn, Eunyoung Lee, Hyewon Lee, Hyeon-Seok Eom, Sun-Young Kong

“…Multiple myeloma (MM) is a malignant disease caused by an abnormal proliferation of plasma cells, of which the prognostic factors include chromosomal abnormality, β-2 microglobulin, and albumin. Recently, the term chromothripsis has emerged, which is the massive but highly localized chromosomal rearrangement in response to a one-step catastrophic event. …”
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Diminished ovarian reserve is associated to euploidy rate: a single center study by Edoardo Carnesi, Stefano Castellano, Stefano Castellano, Elena Albani, Andrea Busnelli, Andrea Busnelli, Antonella Smeraldi, Ozgur Bulbul, Emanuela Morenghi, Valentina Immediata, Paolo Emanuele Levi-Setti, Paolo Emanuele Levi-Setti

“…BackgroundReproductive success shows a well-documented decline with advancing maternal age, primarily due to chromosomal abnormalities (aneuploidies) in embryos. While ovarian reserve markers such as Anti-Müllerian Hormone (AMH) and Antral Follicle Count (AFC) traditionally serve as quantitative predictors of fertility, emerging evidence suggests they may also reflect oocyte quality, particularly in patients with Diminished Ovarian Reserve (DOR). …”
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Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature by Yimo Zeng, Rong Hu, Jian Lu, Yiming Qi, Dan Chen, Chaoxiang Yang, Jing Wu

“…Overall, 28 foetuses were identified to have chromosomal abnormalities (6.9%, 28/407).Conclusions This study indicates that parents of foetuses with GB size anomalies should be informed about the potential for aneuploidy, pathogenic CNVs and SNVs, and genetic testing should be recommended in cases of non-isolated foetal GB size anomalies.…”
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A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

“…There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities. Current genetic testing can clinch an exact diagnosis in 20–25% of such cases. …”
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