Results 21 to 30 of about 37,774 (292)
Insects, 2020 Polymorphic chromosomal inversions have been implicated in local adaptation. In anopheline mosquitoes, inversions also contribute to epidemiologically relevant phenotypes such as resting behavior.
Martin Lukindu +8 more
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The Second Case of Non-Mosaic Trisomy of Chromosome 26 with Homologous Fusion 26q;26q in the Horse
Animals, 2022 We present cytogenetic and genotyping analysis of a Thoroughbred foal with congenital neurologic disorders and its phenotypically normal dam. We show that the foal has non-mosaic trisomy for chromosome 26 (ECA26) but normal 2n = 64 diploid number because
Sharmila Ghosh +5 more
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Pathological and Genetic Analysis of Foetuses with Ultrasonogram Detected Congenital Anomalies: A Cross-sectional Study from Southern India [PDF]
Indian Journal of Neonatal Medicine and ResearchIntroduction: Prenatal Ultrasonogram (USG) detects the majority of congenital anomalies, but a few cases may be missed due to multiple reasons. Hence, a detailed post-mortem evaluation of foetuses following termination of pregnancy can help to arrive at ...
S Ramya Devi, Tanya Salim, Uma Thankam
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Annals of Medicine, 2021 Objectives The aim of this study is to share our experience in the prenatal diagnosis of omphalocele by karyotyping, chromosomal microarray analysis (CMA) and whole exome sequencing (WES).Methods In this retrospective study, 81 cases of omphalocele were ...
Xiaomei Shi +5 more
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A Unique Constitutional Robertsonian Translocation t(13;14) Associated with Severe Aplastic Anaemia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Aplastic anaemia is characterised by cytopenias and hypocellular bone marrow without any evidence of marrow fibrosis or marrow infiltration. There is no specific cytogenetic abnormality associated with aplastic anaemia.
Bhupendra Singh +4 more
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Cytogenetic evaluation of orofacial clefts
National Journal of Clinical Anatomy, 2021 Background: Orofacial cleft (OFC) is one of the common congenital anomalies of the face which includes cleft lip and or cleft palate that causes abnormal appearance of the face.
Anjali Satyen Sabnis, Srivalli Natrajan
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Hereditas, 2009 The karyotype of the pig (Sus scrofa domestica) is studied and characterized after applying G-band and C-band staining procedures. The material examined originates from 5 boars and 5 gilts and consists of cells from fibroblast and lymphoblast cultures. The identity of the X-chromosome is discussed.
E, Hansen-Melander, Y, Melander
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D-karyo—A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism
Diagnostics, 2021 Chromosomal microarray analysis (CMA), recently introduced following conventional cytogenetic technology, can detect submicroscopic copy-number variations (CNVs) in cases previously diagnosed as “cytogenetically benign”.
Osamu Shimokawa +8 more
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Frontiers in Genetics, 2023 Chromosome segmentation is a crucial analyzing task in karyotyping, a technique used in experiments to discover chromosomal abnormalities. Chromosomes often touch and occlude with each other in images, forming various chromosome clusters. The majority of
Chunlong Luo +3 more
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Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 The sufferers of complete androgen insensitivity syndrome (CAIS) are phenotypic females despite of having functional testes and normal male karyotype.
Sudipto Konar +4 more
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