Results 101 to 110 of about 9,097 (228)

Low-level mosaic trisomy 21 at amniocentesis and cordocentesis in the second trimester in a pregnancy associated with positive non-invasive prenatal testing for trisomy 21, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome. Case Report: A 26-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Meng-Shan Lee, Chien-Ling Chiu, Wayseen Wang   +6 more
doaj   +1 more source

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I—clinical impact [PDF]

, 2016
Objective: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study).
Bax, C.J. (Caroline), Bekker, M.N. (Mireille), Bilardo, C.M. (Caterina Maddalena), Boon, E.M.J. (Elles ), Coumans, A. (Audrey), Faas, B.H.W. (Brigitte), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Henneman, L. (Lidewij), Huijsdens-van Amsterdam, K. (Karin), Macville, M.V.E. (Merryn), Oepkes, D., Page-Christiaens, G.C.L. (G. C. Lieve), Pajkrt, E. (Eva), Schuring-Blom, G.H. (Heleen), Sistermans, E.A. (Erik), Suijkerbuijk, R. (Ron), Van Opstal, A.R.M. (Diane), Verweij, E.J.J. (E. J. Joanne), Weiss, M.M. (Marjan M.)   +19 more
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Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization [PDF]

, 2008
Background Routine cytogenetic investigations for ovarian cancers are limited by culture failure and poor growth of cancer cells compared to normal cells. Fluorescence in situ Hybridization (FISH) application or classical comparative genome hybridization
Qumsiyeh Mazin, Fiorentino Francesco, Baldi Marina, Benkhalifa Moncef, Caserta Donatella, Moscarini Massimo   +5 more
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Single cell sequencing reveals low levels of aneuploidy across mammalian tissues [PDF]

, 2014
Whole-chromosome copy number alterations, also known as aneuploidy, are associated with adverse consequences in most cells and organisms. However, high frequencies of aneuploidy have been reported to occur naturally in the mammalian liver and brain ...
Amon, Angelika B, Knouse, Kristin Ann, Whittaker, Charles A., Wu, Jie   +3 more
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A case of de novo duplication of 15q24-q26.3 [PDF]

, 2011
Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations.
Eun Young Kim, Yu Kyong Kim, Mi Kyoung Kim, Ji Mi Jung, Ga Won Jeon, Hye Ran Kim, Jong Beom Sin   +6 more
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Cytogenetic study of down syndrome in Algeria: Report and review

Journal of Medical Sciences, 2016
Background: Down syndrome (DS) is the most common type of chromosomal trisomy found in newborn. It is associated with mental retardation and characteristic facial features. A clinical diagnosis of DS may be unconfirmed in one-third of cases.
Fayza Belmokhtar, Rahma Belmokhtar, Ahmed Kerfouf   +2 more
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Non-disjunction of chromosome 13 [PDF]

, 2017
We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with ...
Bak, Mads, Brandt, Carsten A., Bruun-Petersen, Gert, Bugge, Merete, Collins, Andrew, deLozier, Celia D., Duprez, Laurence, Eiberg, Hans, Hahnemann, Johanne M.D., Hansen, Claus, Hertz, Jens Michael, Lespinasse, James, Lundsteen, Claes, Petersen, Michael B., Rasmussen, Kirsten, Tommerup, Niels, Tranebjaerg, Lisbeth   +16 more
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Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]

, 2017
Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +1 more source

Chromosomal mosaicism goes global [PDF]

, 2008
Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy).
Yurov Yuri B, Vorsanova Svetlana G, Iourov Ivan Y   +2 more
core   +1 more source

Application of Molecular DNA Markers (STRs) in Molecular Diagnosis of Down Syndrome in Iran [PDF]

Journal of Sciences, Islamic Republic of Iran, 2004
Down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. The use of two or more STR markers related to chromosome 21 facilitates the diagnosis of Down syndrome within about six hours from the ...
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