Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities [PDF]
Frontiers in GeneticsObjectiveChromosome microarray analysis (CMA) and karyotyping are two important genetic testing techniques used in prenatal diagnosis. This study aims to evaluate the value of chromosome microarray analysis and karyotyping in the diagnosis of fetal ...
Yun Guo +3 more
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Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis [PDF]
BMC Pregnancy and ChildbirthBackground Although extensively investigated, the genetic etiology of fetal growth restriction (FGR) has not been fully understood. Previous studies have shown the potential of karyotyping, chromosomal microarray analysis (CMA) and trio-based WES (trio ...
Yangping Chen +8 more
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Association of coarctation of aorta with Turner syndrome: a case report [PDF]
Frontiers in PediatricsBackgroundMonosomy 45,X is commonly associated with congenital heart defects, particularly coarctation of the aorta (CoA). In this case, the patient developed respiratory distress due to hemodynamic instability from a large bidirectional patent ductus ...
Musawer Khan +7 more
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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
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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
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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
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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
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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
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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
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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
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