Results 71 to 80 of about 43,589 (247)

Detection of paternal origin of fetal trisomy 18 in a pregnancy conceived by assisted reproductive technology and in vitro fertilization

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present detection of paternal origin of fetal trisomy 18 in a pregnancy conceived by assisted reproductive technology (ART) and in vitro fertilization (IVF).
Chih-Ping Chen, Schu-Rern Chern, Liang-Kai Wang, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +6 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

An Incidental Finding of Gain of a Diminished Chromosome 12 Centromere in an Individual with Lymphocytosis: A Case Report and Clinical Implications in Cytogenetic Testing

Diagnostics
Background: Fluorescence in situ hybridization (FISH) testing against chromosome 12 centromere (CEN12) is routinely included in the work-up of patients with suspected chronic lymphocytic leukemia (CLL) or monoclonal B-cell lymphocytosis (MBL).
Changqing Xia, Jeffrey J. Cannatella, Scott C. Smith, Pamela A. Althof, Haley Koerselman, Thomas Hempel, Erin E. Jaworski, Lisa M. Winkler, Joanna R. Spaulding, Diane Pickering, Joseph D. Khoury, Zhenya Tang   +11 more
doaj   +1 more source

Rapid screening for chromosomal aneuploidies using array-MLPA

BMC Medical Genetics, 2011
Background Chromosome abnormalities, especially trisomy of chromosome 21, 13, or 18 as well as sex chromosome aneuploidy, are a well-established cause of pregnancy loss. Cultured cell karyotype analysis and FISH have been considered reliable detectors of
van Beuningen Rinie, Mommersteeg Monique, Huang Ying, Ren Zhao-Rui, Zhou Da-Wen, Xiong Can, Xu Miao, Yan Jing-Bin, Wang Ying-Tai, Liao Shi-Xiu, Zeng Fanyi, Wu Ying, Zeng Yi-Tao   +12 more
doaj   +1 more source

Social communication skills profile in infants with sex chromosome trisomy at 12 months of age

Infant Behavior and Development
Sex Chromosome Trisomy (SCT) conditions are genetic disorders that affect approximately 1:500 children. Although there is considerable variability in phenotype, individuals with SCT have an elevated likelihood, compared to the general population, of developing social deficits and autism spectrum disorder (ASD).
Rebecca Wilson, Samantha Bothwell, Stephanie K. Takamatsu, Talia Thompson, Karli Swenson, Emily Werner, Nicole Tartaglia   +6 more
openaire   +2 more sources

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

Epilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta, Thomas Reuben, Tohru Okanishi, Go Yoshino, Tatsuo Hosoda, Kentaro Okada, Yoshihiro Maegaki   +6 more
wiley   +1 more source

Comparison of QF-PCR and FISH for Aneuploidy Detection in Prenatal Diagnosis [PDF]

Journal of Clinical and Diagnostic Research, 2019
Introduction: Among all chromosomes (46) in the human genome, particular significance has been given to chromosomes 13, 18, 21, X and Y. This is primarily because of aneuploidy in these chromosomes that result in viable pregnancies with congenital ...
Sandip C Shah, Nidhi D Shah, Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Anil K Mehta, Bhavini S Shah, Mandava V Rao   +7 more
doaj   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, EarlyView.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

Molecular Cytogenetics, 2022
Background Unbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable phenotype depending on the tissue
Xiaolin Hu, Elizabeth K. Baker, Jodie Johnson, Stephanie Balow, Loren D. M. Pena, Laura K. Conlin, Qiaoning Guan, Teresa A. Smolarek   +7 more
doaj   +1 more source

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones [PDF]

, 1993
The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ ...
A Kallioniemi, Anna Jauch, B Dutrillaux, C Lengauer, C Lengauer, CC Collins, Christoph Lengauer, D Pinkel, Detlev Schindler, DH Ledbetter, DH Ledbetter, GD Johnson, H Telenius, Harold C. Riethman, Helen Donis-Keller, J Grouchy de, J Sambrook, J Wiegant, JG Dauwerse, JS Heslop-Harrison, JW IJdo, Michael R. Speicher, P Lichter, P Lichter, PM Nederlof, PM Nederlof, S Manoir du, Susanne Popp, T Ried, T Ried, T Ried, Thomas Cremer   +31 more
core   +1 more source