Results 41 to 50 of about 81,066 (200)

Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome. Case report: A 34-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Chen-Wen Pan, Wayseen Wang   +5 more
doaj   +1 more source

Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome and Siblings [PDF]

, 2011
Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology.
Reeves, Roger H, Richtsmeier, Joan, Starbuck, John M   +2 more
core   +1 more source

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]

, 2015
BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao, Clemens, Michelle, Peters, David G, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +5 more
core   +2 more sources

Isolated Aberrant Right Subclavian Artery and Trisomy 21 Case

Forbes Tıp Dergisi, 2021
Abnormal right subclavian artery (ARSA) is the most common anomaly of the aortic arch with a rate of 0.5-1.4%. Normally, three vessels arises from the aortic arch, while four vessels arise in ARSA.
İbrahim Ömeroğlu, Halil Gursoy Pala, Hakan Gölbaşı   +2 more
doaj   +1 more source

Distribution of chromosome 18 and X centric heterochromatin in the interphase nucleus of cultured human cells [PDF]

, 1990
In situ hybridization of human chromosome 18 and X-specific alphoid DNA-probes was performed in combination with three dimensional (3D) and two dimensional (2D) image analysis to study the interphase distribution of the centric heterochromatin (18c and ...
Agard, Arnoldus, Avivi, Baumann, Belmont, Bennett, Blobel, Borden, Brakenhoff, Brinkley, Comings, Comings, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Cremer, Devilee, Devilee, Emmerich, Guttenbach, Hadlaczky, Hayflick, Hens, Heslop-Harrison, Hilliker, Hopman, Hopman, Hubert, Johnson, Jovin, Kuhn, Landegent, Langer, Lichter, Lichter, Manuelidis, Manuelidis, Manuelidis, Manuelidis, Mathog, Nederlof, O'Brien, Ochs, Oud, Pinkel, Rappold, Rappold, Rawlins, Rosa, Sachs, Schardin, Schmid, Schroeder, Schwarzacher, Schwarzacher, Stelzer, Vogel, Wijnaendts-van-Resandt, Wollenberg, Yang   +63 more
core   +1 more source

A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei [PDF]

, 1995
Fluorescent in situ hybridization (FISH) with a 21q11-specific probe (CB21c1) consisting of three non-overlapping cosmids has been applied to interphase amniocytes of pregnancies at increased risk for fetal aneuploidy (N = 78) and to interphase ...
Berg, C.D.F. (Cardi) van den, Eussen, H.J.F.M.M. (Bert), Heide, A. (Annette) van der, Hmel, J.O. (J.) van, Los, F.J., Van Opstal, A.R.M. (Diane), Veld, P.A. (Peter) in't   +6 more
core   +1 more source

Trisomy 21 induces pericentrosomal crowding delaying primary ciliogenesis and mouse cerebellar development

eLife, 2023
Trisomy 21, the genetic cause of Down syndrome, disrupts primary cilia formation and function, in part through elevated Pericentrin, a centrosome protein encoded on chromosome 21.
Cayla E Jewett, Bailey L McCurdy, Eileen T O'Toole, Alexander J Stemm-Wolf, Katherine S Given, Carrie H Lin, Valerie Olsen, Whitney Martin, Laura Reinholdt, Joaquín M Espinosa, Kelly D Sullivan, Wendy B Macklin, Rytis Prekeris, Chad G Pearson   +13 more
doaj   +1 more source

DNA hydroxymethylation levels are altered in blood cells from Down syndrome persons enrolled in the MARK-AGE project [PDF]

, 2017
Down syndrome (DS) is caused by the presence of part or an entire extra copy of chromosome 21, a phenomenon that can cause a wide spectrum of clinically defined phenotypes of the disease. Most of the clinical signs of DS are typical of the ageing process
BACALINI, MARIA GIULIA, Breusing, Nicolle, Bürkle, Alexander, CAIAFA, Paola, CALABRESE, ROBERTA, Capri, Miriam, CICCARONE, FABIO, Franceschi, Claudio, Grune, Tilman, GUASTAFIERRO, Tiziana, Malavolta, Marco, Moreno villanueva, María, REALE, Anna, VALENTINI, ELISABETTA, ZAMPIERI, Michele   +14 more
core   +1 more source

A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]

, 2014
<b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm, Hermanns, Pia, Jones, Jez, Mansor, Mohamed, Pohlenz, Joachim, Schulga, John, Shepherd, Scott   +6 more
core   +1 more source

Probiotic-associated aspiration pneumonia due to Lactobacillus rhamnosus [PDF]

, 2014
Lactobacilli are low-virulence, commensal organisms of the gastrointestinal and genitourinary tracts and are commonly used as “probiotic supplements.” Herein, we describe an episode of respiratory syncytial virus (RSV) bronchiolitis with bacterial ...
Abgrall, Bloemers, C. D. Doern, C.-A. D. Burnham, Chiba, Clinical and Laboratory Standards Institute, Darbro, De Groote, Didari, El Feghaly, F. Afolabi, Fritz, Fruchart, Gouriet, Honeycutt, Jones, Kochan, Kunz, Land, Ledoux, Luong, Luoto, Mackay, Mehta, Morrow, Namnyak, Querol, Rahman, Rautio, Rogasi, S. T. Nguyen, Salminen, Sriskandan, Tena, Vahabnezhad, Whelan, Wood, Zachariah   +37 more
core   +2 more sources