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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.
Fan Jin
exaly +3 more sources
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 ...
Devaraj Somasundaram +3 more
doaj +1 more source
Prenatal diagnosis of fetuses conceived by assisted reproductive technology by karyotyping and chromosomal microarray analysis [PDF]
PeerJ, 2023 Background Invasive prenatal evaluation by chromosomal microarray analysis (CMA) and karyotyping might represent an important option in pregnant women, but limited reports have applied CMA and karyotyping of fetuses conceived by assisted reproductive ...
Huan Guo +7 more
doaj +2 more sources
Cytogenetic Study of Patients with Primary Amenorrhea in the Northeast of Iran [PDF]
Iranian Journal of Pathology, 2021 Background & Objective: Primary amenorrhea refers to the absence of menstruation in females of reproductive by age 16 when the development of secondary sexual characteristics is evident (breast development, pubic hair) or by age 14 when there are no ...
Narjes Soltani +2 more
doaj +1 more source
Incidence and genetic outcome of fetal choroid plexus cyst diagnosed at 18-23 weeks scan: review of case series [PDF]
New Indian Journal of OBGYN, 2019 Objectives: The objective of the study is to determine the incidence, clinical and ultrasound characteristics of choroid plexus cyst diagnosed during the 18 -23 weeks anomaly scan and the genetic outcome in 6 pregnancies that underwent molecular ...
Olufemi Adebari Oloyede
doaj +1 more source
Several different cytogenetic clones arising during treatment of Philadelphia positive chronic myeloid leukemia with tyrosine kinase inhibitors lead to the progression into Philadelphia negative acute myeloid leukemia [PDF]
Vojnosanitetski Pregled, 2021 Introduction. Additional karyotype abnormalities in the Philadelphia-positive (Ph+) clone can emerge during the progression of chronic myeloid leukemia (CML) and are of-ten associated with the resistance to treatment with tyrosine kinase inhibitors (TKI).
Denčić-Fekete Marija +6 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
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
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 ...
Christoph Lengauer +6 more
openaire +3 more sources
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