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Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children
Published 2018-01-01“…This case series of three children reports clinical features and chromosomal abnormalities seen in a craniofacial clinic. All presented with orofacial cleft, developmental or intellectual disability, and dysmorphism. …”
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Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality
Published 2016-01-01“…The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. …”
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Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities
Published 2022-03-01“… Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis). …”
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Chromosomal Abnormalities in Allium cepa Induced by Treated Textile Effluents: Spatial and Temporal Variations
Published 2020-01-01“…The present study was aimed to assess the spatial and temporal variations of the physical and chemical water quality parameters of a natural water body receiving treated textile effluents and to assess the chromosomal abnormalities induced by the treated textile effluents. …”
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Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ventriculomegaly Detected in Ultrasonographic Imaging
Published 2022-12-01“…Invasive prenatal tests were performed on 27 patients and one of them had a chromosomal abnormality. No significant correlation was observed between the incidence of postpartum neurodevelopmental disorders and the degrees of ventriculomegaly. …”
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Second Trimester Genetic Amniocentesis: Five- Year Experience of a Maternal- Fetal Medicine Unit
Published 2013-12-01Subjects: Get full text
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Endometriosis does not impact aneuploidy rates of products of conception in IVF population
Published 2025-01-01Subjects: Get full text
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Evaluation of Fetuses Diagnosed with Megacystis During Prenatal Period
Published 2021-12-01Subjects: Get full text
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Comparative cytogenetics of anembryonic pregnancies and missed abortions in human
Published 2023-03-01Subjects: Get full text
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Fabrication of a vermifiltration unit for wastewater recycling and performance of vermifiltered water (vermiaqua) on onion (Allium cepa)
Published 2024-01-01Subjects: Get full text
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Prenatal Cytogenetic Findings in 13.466 Cases of High-Risk Pregnant Women in One Laboratory
Published 2013-12-01Subjects: Get full text
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Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing
Published 2025-01-01Subjects: Get full text
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Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report
Published 2012-01-01“…Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. …”
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Recent Advances in the Pathogenesis of Syndromic Autisms
Published 2009-01-01“…The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” …”
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Cystic Hygroma and Monosomy X
Published 2013-04-01“…They are associated with chromosomal abnormalities and major structural anomalies. We describe a case of cystic hygroma associated with monosomy X and termination of pregnancy at 14 weeks of gestation. …”
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Study on the Imprinting Status of Insulin-Like Growth Factor II (IGF-II) Gene in Villus during 6–10 Gestational Weeks
Published 2010-01-01“…During weeks 6–10 of gestation, abnormal embryonic development is correlated with chromosomal abnormalities. The imprinting status of IGF-II gene played important roles in embryonic development, and imprinting loss might be related to chromosomal abnormalities.…”
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Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes
Published 2012-01-01“…Cytogenetic analysis of women with ovarian defects revealed the chromosome abnormalities to be associated with 14% of the cases analyzed. …”
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A Triad of Congenital Diaphragmatic Hernia, Meckel’s Diverticulum, and Heterotopic Pancreas
Published 2014-01-01“…It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel’s diverticulum, and heterotopic pancreatic tissue. …”
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