Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report by Eda-Cristina Abuchaibe, Nancy Dobrolet, Katherine Peicher, Roque Ventura, Elizabeth Welch

“…Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. …”
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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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Cystic Hygroma and Monosomy X by Aykut Özek, Mert Turğal, Özgür Özyüncü, Sinan Beksaç

“…They are associated with chromosomal abnormalities and major structural anomalies. We describe a case of cystic hygroma associated with monosomy X and termination of pregnancy at 14 weeks of gestation. …”
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Study on the Imprinting Status of Insulin-Like Growth Factor II (IGF-II) Gene in Villus during 6–10 Gestational Weeks by Jianhong Chen, Qun Fang, Baojiang Chen, Yi Zhou, Yanmin Luo

“…During weeks 6–10 of gestation, abnormal embryonic development is correlated with chromosomal abnormalities. The imprinting status of IGF-II gene played important roles in embryonic development, and imprinting loss might be related to chromosomal abnormalities.…”
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Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes by Lakshmi Rao Kandukuri, Venkata Padmalatha, Murthy Kanakavalli, Raseswari Turlapati, Mangalipally Swapna, Metuku Vidyadhari, Govindaraghavan Saranaya, Kattera Himaja, Mamata Deenadayal, Bipin Kumar Sethi, Prasun Deb, Nalini Gupta, Baidyanath Chakraborthy, Pratibha Nallari, Lalji Singh

“…Cytogenetic analysis of women with ovarian defects revealed the chromosome abnormalities to be associated with 14% of the cases analyzed. …”
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A Triad of Congenital Diaphragmatic Hernia, Meckel’s Diverticulum, and Heterotopic Pancreas by Parkash Mandhan, Amer Al Saied, Mansour J. Ali

“…It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel’s diverticulum, and heterotopic pancreatic tissue. …”
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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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Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly by Jianlong Zhuang, Junyu Wang, Zhengping Huang, Yu’e Chen, Chunnuan Chen

“…The obtained results were further verified by Sanger sequencing or real time quantitative PCR (qPCR).ResultsNo chromosomal abnormality or CNVs were identified in the fetus by CMA. …”
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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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