Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis
نویسندگان
چکیده
منابع مشابه
Invasive Prenatal Diagnosis: Amniocentesis
In this article, we will review the history and the evolution of the technique of amniocentesis and the indications of the most common invasive diagnostic and therapeutic procedure. Moreover, the most common complications of amniocentesis will be presented. Finally, we will try to establish if the use of con current ultrasound had any effect on the prevalence on these complications.
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A female infant with multiple malformations and mental retardation was noted to have a rare de novo chromosome abnormality involving mosaicism with two cell lines, one with a ring chromosome 13, and the other with partial trisomy 13 owing to a complex rearrangement. Cytogenetic examination excluded the presence of a t(13q;13q) cell line and showed a cell line with a marker chromosome containing...
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We report on a female patient, with a de novo mosaicism for a structural rearrangement producing trisomy 2p21-->pter and monosomy 8p21-pter. GTG bands and fluorescence in situ hybridization (FISH) in lymphocytes identified: mos 46,XX,der(8)(8qter-->8p21::p21::2p21-->pter),9qh +[52]/ 46,XX,9qh+[82]. Fibroblasts showed the same cell lines in 15 and 12 cells respectively. DNA profiling with fourte...
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...
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ژورنال
عنوان ژورنال: Taiwanese Journal of Obstetrics and Gynecology
سال: 2020
ISSN: 1028-4559
DOI: 10.1016/j.tjog.2019.11.021