Results 1 to 10 of about 81,066 (200)

Novel Co‐Occurrence of Trisomy 21 and Heterozygous CFTR Mutation [PDF]

Respirology Case Reports
The coexistence of trisomy 21 and cystic fibrosis (CF) is extremely rare, with fewer than 10 reported cases, all involving homozygous CFTR mutations. However, the impact of a heterozygous CFTR mutation in a patient with trisomy 21 remains unexplored.
Majd Oweidat, Tamer Qutaina, Alzahra Akram Hamdan, Fatima Zain Hanini   +3 more
doaj   +2 more sources

How Is Pulmonary Hypertension Characterised and Treated in Children With Trisomy 21? Observations From the TOPP Registry (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension) [PDF]

Pulmonary Circulation
Pulmonary hypertension is common in children with Trisomy 21, frequently with multifactorial aetiologies. Registry data provide better understanding of disease development, diagnostic workup and treatment patterns in children with Trisomy 21.
Tilman Humpl, Rolf M. F. Berger, Damien Bonnet, Maurice Beghetti, Dunbar Ivy, For the TOPP Investigators   +5 more
doaj   +2 more sources

Predictive value of the maternal alpha-fetoprotein variant, L2, during the first trimester of pregnancy screening for fetal trisomy 21, trisomy 18, and neural tube defects [PDF]

BMC Pregnancy and Childbirth
Background To assess the predictive usefulness of maternal serum alpha fetoprotein variant L2 (AFP-L2) for fetal trisomy 21, trisomy 18, and neural tube abnormalities (NTDs) in early pregnancy screening.
Yiming Chen, Wenwen Ning, Caihe Wen, Linyuan Gu, Xuelian Chu   +4 more
doaj   +2 more sources

Treatment of iliac arteriovenous malformation associated with trisomy 21: a case report [PDF]

Journal of Cardiothoracic Surgery
Both arteriovenous malformation (AVM) and trisomy 21 are rare diseases. Studies have shown that individuals with trisomy 21 may have potential vascular malformations, with the main site of onset being the portal system.
Jinming Yang, Weichao Zhao, Liping Liang, Guoqing Chi   +3 more
doaj   +2 more sources

The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform [PDF]

, 2014
Objective: Recent non-invasive prenatal testing (NIPT) technologies are based on next-generation sequencing (NGS). NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms ...
A Borrell, A Fortuny, A Tabor, AB Sparks, Ahong Zhang, Ayang Wu, B Langmead, BF Crandall, Byung Chul Kim, C Liao, CJ McNamara, DW Bianchi, G Ashoor, GE Palomaki, GP Henry, H Li, Hailing Zheng, Hee Jae Joo, Hongliang Chen, Huan Xu, JA Sainz, JF Boland, Jin Lin, Jinchun Chen, Jong Bhak, K Song, KC Chan, KH Nicolaides, KO Kagan, L Berktold, M Ehrich, M Muñoz-Cortes, M Smid, M van den Berg, MA Quail, ME Norton, P Benn, Qiwei Guo, R Li, S Chen, S Morgan, Shengmao Quan, Sin-Gi Park, Sinuhe Hahn, TK Lau, Xingqiang Zhu, Y Wang, Yihan Li, YM Lo, YM Lo, Young Joo Jeon, Yulin Zhou   +51 more
core   +13 more sources

Trisomy 21 [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Educational Items on Trisomy 21.
Huret, JL, Sinet, PM
  +5 more sources

Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell line

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy (UPD) 21 and postnatal decrease of the trisomy 21 cell line.
Chih-Ping Chen, Te-Yao Hsu, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Liang-Kai Wang, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Yun-Yi Chen, Wayseen Wang   +10 more
doaj   +1 more source

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS). [PDF]

PLoS ONE, 2017
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation.
Charles M Strom, Ben Anderson, David Tsao, Ke Zhang, Yan Liu, Kayla Livingston, Christopher Elzinga, Matthew Evans, Quoclinh Nguyen, David Wolfson, Charles Rowland, Paula Kolacki, Megan Maxwell, Jia-Chi Wang, Douglas Rabin, Joseph Catanese, Renius Owen, Corey Braastad, Weimin Sun   +18 more
doaj   +1 more source

Serum biochemical parameters in pregnant women with and without fetal chromosomal abnornalities

Фундаментальная и клиническая медицина, 2022
Aim. To analyse the levels of serum beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in pregnant women without fetal chromosomal abnormalities and with fetal trisomy 21 (Down syndrome) or 18 (Edwards syndrome ...
A. N. Volkov, O. I. Rytenkova, E. V. Tsurkan, T. A. Babarykina, G. S. Surzhikova   +4 more
doaj   +1 more source

A neonate with a unique non-Down syndrome transient proliferative megakaryoblastic disease [PDF]

, 2017
Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).32 Recently, transientness has also been reported in acute myeloid leukemia ...
Apollonsky, Basu, Coenen, den Berg, Houwing, Locatelli, Mayer, McCormick, Nakashima, Nikolaev, Polski, Rooij, Roy, Rozen, Schifferli, Silvio, Takahashi, Vries, Yanase   +18 more
core   +7 more sources