Results 11 to 20 of about 29,641 (255)
A Novel Automated Chromosome Analyzer Software Bundle for Karyotyping and Birth Defect Analysis
IEEE Access, 2023 Karyotyping is a procedure to diagnose birth defects using chromosome pair. During the Karyotyping chromosomes arranged based on the length and each chromosome will be paired based on various parameters such as, chromosome length, banding pattern and ...
Nirmala Madian, Devaraj Somasundaram
exaly +3 more sources
In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy? [PDF]
Frontiers in MedicinePurposeCopy number variation sequencing (CNV-Seq) has become a first-line prenatal diagnostic technology. The purpose of this study was to investigate the changes in the target population for prenatal diagnosis in the CNV-Seq era and to assess the ...
Shaozhe Yang +13 more
doaj +2 more sources
Frontiers in Genetics, 2019 In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Jin Fan
exaly +3 more sources
G3: Genes, Genomes, Genetics, 2016 Fluorescence in situ hybridization (FISH)-based karyotyping is a powerful cytogenetics tool to study chromosome organization, behavior, and chromosome evolution.
CARLOS Vallejos +2 more
exaly +3 more sources
Rapid progression to Richter’s syndrome in a patient with chronic lymphocytic leukemia and near-triploid karyotype [PDF]
Vojnosanitetski Pregled, 2023 Introduction. The presence of aneuploidy in patients diagnosed with chronic lymphocytic leukemia (CLL), except trisomy 12, is considered quite uncommon.
Denčić-Fekete Marija +7 more
doaj +1 more source
Umbilical Cyst with Edward Syndrome [PDF]
Indian Journal of Neonatal Medicine and Research, 2016 The advances in Obstetric ultrasonography have allowed early and accurate detection of anomalies in utero. Umbilical cord anomalies may include cysts, vascular anomalies and masses.
Bhavesh Dinesh Rathod +1 more
doaj +1 more source
Identification of heterochromatic variations in nonsyndromic cleft lip and palate
Journal of Orofacial Sciences, 2023 Introduction: Orofacial cleft (OFC) has been one of the major common congenital anomalies exhibiting prominent ramifications allied with the medical, social, psychological, and economic strands.
Soumya Raj +5 more
doaj +1 more source
Prevalence of chromosome anomalies in a deer farm with fertility decline in Malaysia
Future Science OA, 2020 Background: A number of factors are known to reduce fertility rate in animals and one of the important categories of such factors is chromosome anomalies. They can occur with or without causing phenotypic abnormalities on animals; in some cases, they may
Muhammad Sanusi Yahaya +4 more
doaj +1 more source
Frontiers in Molecular Biosciences, 2021 Understanding the structure of chromatin in chromosomes during normal and diseased state of cells is still one of the key challenges in structural biology.
Archana Bhartiya +7 more
doaj +1 more source
Proceedings of the National Academy of Sciences, 2002 Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci ...
Tian-Li, Wang +6 more
openaire +2 more sources