Showing 1 - 20 results of 71 for search '"chromosome abnormality"', query time: 0.14s Refine Results
  1. 1

    Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children by Rathika Damodara Shenoy, Vijaya Shenoy, Vikram Shetty

    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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  2. 2

    Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality by Gioconda Manassero-Morales, Denisse Alvarez-Manassero, Alfredo Merino-Luna

    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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  3. 3

    Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities by Abhijeet Kumar, Madhusudan Dey, Devendra Arora

    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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  4. 4

    Chromosomal Abnormalities in Allium cepa Induced by Treated Textile Effluents: Spatial and Temporal Variations by W. M. Dimuthu Nilmini Wijeyaratne, P. G. Minola Udayangani Wickramasinghe

    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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  5. 5

    Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ventriculomegaly Detected in Ultrasonographic Imaging by Erkan Cagliyan, Samican Ozmen, Sureyya Saridas Demir, Ceren Aydin, Egehan Bilen, Handan Guleryuz, Elif Yasar, Derya Ercal, Elcin Bora, Tufan Cankaya

    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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    Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report by Eda-Cristina Abuchaibe, Nancy Dobrolet, Katherine Peicher, Roque Ventura, Elizabeth Welch

    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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  16. 16

    Recent Advances in the Pathogenesis of Syndromic Autisms by A. Benvenuto, B. Manzi, R. Alessandrelli, C. Galasso, P. Curatolo

    Published 2009-01-01
    “…The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” …”
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  17. 17

    Cystic Hygroma and Monosomy X by Aykut Özek, Mert Turğal, Özgür Özyüncü, Sinan Beksaç

    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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  18. 18

    Study on the Imprinting Status of Insulin-Like Growth Factor II (IGF-II) Gene in Villus during 6–10 Gestational Weeks by Jianhong Chen, Qun Fang, Baojiang Chen, Yi Zhou, Yanmin Luo

    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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    A Triad of Congenital Diaphragmatic Hernia, Meckel’s Diverticulum, and Heterotopic Pancreas by Parkash Mandhan, Amer Al Saied, Mansour J. Ali

    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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