Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
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منابع مشابه
Prenatal Genetic Diagnosis through Chorionic Villus Sampling
Chor ion ic v i l l us sampl ing (CVS) i s a technique for prenatal diagnosis of the fetal karyotype through cytogenetic analysis, and of Mendelian inherited diseases through molecular or biochemical analysis. Because the sampling technique can be performed in the first-trimester of pregnancy and diagnostic results can be obtained earlier than with amniocentesis, it has been utilized by clinici...
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Chorionic villus sampling (CVS) is the method of choice for first trimester invasive prenatal diagnosis. In expert hands, it is nowadays considered as safe as amniocentesis and has the advantage of an earlier diagnosis. In this review, we des cribe the technique of the procedure, its indications and contra indications and the requirements concerning adequate training and optimum clinical practi...
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Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo ...
متن کاملConsequences of Amniocentesis and Chorionic Villus Sampling for Prenatal Diagnosis
Cederholm, M. 2002. Consequences of amniocentesis and chorionic villus sampling for prenatal diagnosis. Acta Universitatis Upsaliensis. Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1118, 43 pp. Uppsala. ISBN 91554-5225-6. Amniocentesis (AC) and chorionic villus sampling (CVS) are the principal methods for fetal karyotyping. The aim of this thesis was to evaluate...
متن کاملPrenatal Diagnosis, Sampling of Chorionic Villi
Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...
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ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2016
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2016.07.010