Results 61 to 70 of about 81,066 (200)

A Cross-sectional Study on Molecular Cartography: The Mapping of Down Syndrome with Cytogenetic Tools [PDF]

National Journal of Laboratory Medicine
Introduction: Down Syndrome (DS), or trisomy 21, is the most common genetic cause of intellectual disability among children, with an incidence of 1 in 700 births.
A Deepa, K Chandramouleeswari, M Dougul Regis   +2 more
doaj   +1 more source

Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21

Case Reports in Pediatrics, 2020
Pediatric acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) that may be divided into two subgroups: (1) Down syndrome- (DS-) related AMKL which generally has a favorable prognosis and (2) non-DS-related AMKL which ...
Eric Won, Tanja A. Gruber, Suzanne Tucker, Deborah E. Schiff   +3 more
doaj   +1 more source

The birth of a child with Down’s syndrome. The impact of the first parent interview

Acta Pediátrica de México, 2014
The birth of a child with congenital malformations or genetic syndromes is a relatively common occurrence: 3 to 4% of live births have some major malformation, important enough to endanger their life or development; this situation is accompanied by high ...
Karla Adney Flores-Arizmendi, Armando Garduño-Espinosa, Rosalía Garza-Elizondo   +2 more
doaj   +1 more source

Aneuploidy – trisomy of the 21 chromosome [PDF]

, 2009
Trisomija kromosoma 21 je vrsta aneuploidije, tj. genetički poremećaj koji uzrokuje bolest pod nazivom Down-ov sindrom (DS). Karakteristična obilježja te bolesti su mentalna zaostalost, zastoj u fizičkom rastu i razvoju, te karakterističan izgled glave ...
Baričević, Andreja
core   +2 more sources

Distribusi Penderita Sindrom Down Berdasarkan Analisis Sitogenetika Di Laboratorium CEBIOR [PDF]

, 2015
Background : Down syndrome is a condition when a person has an extra number of chromosomes 21 in the form of either classical trisomy 21, translocation or mosaic.
Berlinda, Impi, Eka Putra, Farmaditya, Faradz, Sultana M H   +2 more
core   +2 more sources

Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis

Ultrasound International Open, 2019
Objective To investigate the clinical relevance of an isolated echogenic cardiac focus (iECF) as a marker for trisomy 21 using a large second-trimester collective including a low-risk subgroup. Materials and Methods We retrospectively evaluated 1 25 211
Elisabeth Wrede, Alexander Johannes Knippel, Pablo Emilio Verde, Ruediger Hammer, Peter Kozlowski   +4 more
doaj   +1 more source

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
core  

Overexpression of copper zinc superoxide dismutase impairs human trophoblast cell fusion and differentiation.: SOD-1 and Human Trophoblast Differentiation [PDF]

, 2001
The syncytiotrophoblast is the major component of the human placenta, involved in feto-maternal exchanges and secretion of pregnancy-specific hormones. Multinucleated syncytiotrophoblast arises from fusion of mononuclear cytotrophoblast cells. In trisomy
Anderson, Wayne, Bird, Terry, Evain-Brion, Danièle, Frendo, Jean-Louis, Guibourdenche, Jean, Luton, Dominique, Massin, Nathalie, Muller, Francoise, Thérond, Patrice, Vidaud, Michel   +9 more
core   +2 more sources

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype

Molecular Genetics and Metabolism Reports
Background: Transient abnormal myelopoiesis (TAM) is a congenital leukemia specific to neonates with Down syndrome (DS) or trisomy 21. However, rare cases of TAM can also occur with acquired trisomy 21 mutations or mosaic trisomy 21, leading to potential
Junpeng Cai, Xiaomin Zhou, Yu Zhou, Guanghuan Pi   +3 more
doaj   +1 more source