Results 11 to 20 of about 76,750 (219)

Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. [PDF]

PLoS ONE, 2011
Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21.
Eric Z Chen, Rossa W K Chiu, Hao Sun, Ranjit Akolekar, K C Allen Chan, Tak Y Leung, Peiyong Jiang, Yama W L Zheng, Fiona M F Lun, Lisa Y S Chan, Yongjie Jin, Attie T J I Go, Elizabeth T Lau, William W K To, Wing C Leung, Rebecca Y K Tang, Sidney K C Au-Yeung, Helena Lam, Yu Y Kung, Xiuqing Zhang, John M G van Vugt, Ryoko Minekawa, Mary H Y Tang, Jun Wang, Jun Wang, Cees B M Oudejans, Tze K Lau, Kypros H Nicolaides, Y M Dennis Lo   +28 more
doaj   +10 more sources

Modelling Down Syndrome leukaemia using transchromosomic ES cell lines. [PDF]

, 2009
PhDAMKL (acute megakaryoblastic leukaemia) accounts for at least 50% of all cases of acute myeloid leukaemia (AML) associated with Down Syndrome (DS). Every tenth neonate with DS develops Transient Myeloproliferative Disorder (TMD), a self-regressing
De Vita, Serena
core   +4 more sources

Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta-analysis. [PDF]

Acta Obstet Gynecol Scand
Fetuses with a nuchal translucency between 3.0 and 3.4 mm showed a high rate of chromosomal anomalies and copy number variants, most of which could potentially be detected through cell‐free DNA. Abstract Introduction To report the prevalence of chromosomal anomalies in fetuses with a nuchal translucency (NT) between 3.0 and 3.4 mm and to assess the ...
Carta A, Della Valle L, Rizzo G, Mappa I, Maruotti G, Flacco ME, Manzoli L, Cormio G, Khalil A, Galindo A, D'Antonio F.   +10 more
europepmc   +2 more sources

On the origin of trisomy 21 Down syndrome [PDF]

, 2008
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Nikos Papadogiannakis, Maj A Hultén, Papadogiannakis, Nikos, Westgren, Magnus, Jonsson, Anna Maria, Tankimanova, Maira, Patel, Suketu D., Iwarsson, Erik, Maira Tankimanova, Anna Jonsson, Magnus Westgren, Erik Iwarsson, Hultén, Maj A., Suketu D Patel   +13 more
core   +1 more source

Germinal and somatic trisomy 21 mosaicism : how common is it, what are the implications for individual carriers and how does it come about? [PDF]

, 2010
It is well known that varying degrees of mosaicism for Trisomy 21, primarily a combination of normal and Trisomy 21 cells within individual tissues, may exist in the human population. This involves both Trisomy 21 mosaicism occurring in the germ line and
Maj Hulten, Jonasson, Jon,, Jon Jonasson, Ann Nordgren, Nordgren, Ann, Iwarsson, Erik,, Nordgren, Ann,, Iwarsson, Erik, Nordgren, A,, Jonasson, Jon, Erik Iwarsson, Hultén, Maj A., Jonasson, J, Hulten, MA, Iwarsson, E,, Hultén, Maj A,   +15 more
core   +1 more source

Fetuin A concentration in the second trimester amniotic fluid of fetuses with Trisomy 21 appears to be lower: phenotypic considerations [PDF]

, 2012
Objective: We investigated whether the concentration of the glycoprotein fetuin A is altered in the second trimester amniotic fluid of trisomy 21 pregnancies compared with euploid pregnancies. Methods.
Iliodromiti, S., Drakoulis, N., Iliodromiti, Z., N. Vrachnis, C. Pangalos, Vrachnis, N., Pangalos, C., S. Iliodromiti, D. Botsis, Botsis, D., Evangelia Samoli, Creatsas, G., N. Drakoulis, Z. Iliodromiti, G. Creatsas, Samoli, Evangelia   +15 more
core   +1 more source

Hydroxyurea Improves Spatial Memory and Cognitive Plasticity in Mice and Has a Mild Effect on These Parameters in a Down Syndrome Mouse Model

Frontiers in Aging Neuroscience, 2019
Down syndrome (DS), a genetic disorder caused by partial or complete triplication of chromosome 21, is the most common genetic cause of intellectual disability.
Rebecca Deering Brose, Alena Savonenko, Benjamin Devenney, Kirby D. Smith, Roger H. Reeves, Roger H. Reeves   +5 more
doaj   +1 more source

Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions

Diagnostics, 2023
Non-invasive prenatal testing was first discovered in 1988; it was primarily thought to be able to detect common aneuploidies, such as Patau syndrome (T13), Edward Syndrome (T18), and Down syndrome (T21).
Siva Shantini Jayashankar, Muhammad Luqman Nasaruddin, Muhammad Faiz Hassan, Rima Anggrena Dasrilsyah, Mohamad Nasir Shafiee, Noor Akmal Shareela Ismail, Ekram Alias   +6 more
doaj   +1 more source

Prenatal Diagnosis of Umbilical Artery Aneurysm with Good Fetal Outcome and Review of Literature [PDF]

Journal of Clinical and Diagnostic Research, 2016
Umbilical artery aneurysm is a rare condition. Till date, 14 cases are reported and only 4 had good fetal outcome. Umbilical artery aneurysm is associated with high risk of fetal aneuploidy and fetal demise.
Neetha M Vyas, Lakshmi Manjeera, Supriya Rai, Sharath Devdas   +3 more
doaj   +1 more source

Asynchronous excitatory neuron development in an isogenic cortical spheroid model of Down syndrome

Frontiers in Neuroscience, 2022
The intellectual disability (ID) in Down syndrome (DS) is thought to result from a variety of developmental deficits such as alterations in neural progenitor division, neurogenesis, gliogenesis, cortical architecture, and reduced cortical volume. However,
Zhen Li, Jenny A. Klein, Jenny A. Klein, Sanjeev Rampam, Ronni Kurzion, Natalie Baker Campbell, Yesha Patel, Yesha Patel, Tarik F. Haydar, Ella Zeldich   +9 more
doaj   +1 more source