Results 21 to 30 of about 97,595 (299)

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe, Lugliè, Pietrina Francesca, Sale, Silvana, Spano, Giovanni   +3 more
core   +1 more source

Chromosomal in situ suppression hybridization of immunologically classified mitotic cells in hematologic malignancies [PDF]

, 1992
Chromosomal in situ suppression (CISS) hybridization was performed with library DNA from sorted human chromosomes 8, 9, 15, 17, 21, and 22 on immunologically stained bone marrow cells of four patients with a hematologic neoplasm, including two patients ...
Arnoldus, Cremer, Cremer, Dauwerse, Edwards, Erber, Hopman, Johnson, Jotterand Bellomo, Knuutila, Knuutila, Larramendy, Larramendy, Lichter, Lichter, Marianne Tiainen, Martine Jotterand Bellomo, Patricia Emmerich, Perez Losada, Pinkel, Pinkel, Popp, Sakari Knuutila, Susanne Popp, Tapani Ruutu, Teerenhovi, Thomas Cremer, Valerie Parlier, Wessman, Willard   +29 more
core   +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

Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]

, 2016
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann, Jacobs, Myrthe, McGowan, Ruth, Nelson, Scott, Pell, Jill P.   +4 more
core   +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

Hypermetabolism in mice carrying a near-complete human chromosome 21

eLife, 2023
The consequences of aneuploidy have traditionally been studied in cell and animal models in which the extrachromosomal DNA is from the same species. Here, we explore a fundamental question concerning the impact of aneuploidy on systemic metabolism using ...
Dylan C Sarver, Cheng Xu, Susana Rodriguez, Susan Aja, Andrew E Jaffe, Feng J Gao, Michael Delannoy, Muthu Periasamy, Yasuhiro Kazuki, Mitsuo Oshimura, Roger H Reeves, G William Wong   +11 more
doaj   +1 more source

Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybridization techniques: diagnosis of trisomy 18 with probe L1.84 [PDF]

, 1986
The localization of chromosome 18 in human interphase nuclei is demonstrated by use of radioactive and nonradioactive in situ hybridization techniques with a DNA clone designated L1.84.
A. Brückner, AHN Hopman, AL Jørgensen, AR Mitchell, B Trask, BU Zabel, CD Bloomfield, D Pinkel, GA Rappold, GA Rappold, H Hoehn, H. D. Hager, H. P. Scholl, HF Willard, J Wolfe, J. Landegent, JC Wu, JE Landegent, JE Landegent, L Manuelidis, LA Herzenberg, M Schardin, M Schmid, M Spaeter, M. Schardin, M. van der Ploeg, MM LeBeau, P Devilee, P Devilee, P. Devilee, P. Pearson, T Cremer, T. Cremer, W Schempp   +33 more
core   +1 more source

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]

, 2014
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S, Parks, W Tony, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +4 more
core   +1 more source

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Frontiers in Cellular Neuroscience, 2020
Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi, Miho Takami, Mami Matsuo-Takasaki   +2 more
doaj   +1 more source

Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy

Taiwanese Journal of Obstetrics & Gynecology, 2007
Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations.
Chih-Ping Chen
doaj   +1 more source