Results 31 to 40 of about 103,499 (299)

Prenatal Diagnosis of Complex Copy Number Variants in the Fetus and Associated Cytogenetic Findings in Parents

Clinical and Experimental Obstetrics & Gynecology, 2023
Background: Co-occurrence of complex copy number variants (CNVs) is associated with more severe clinical expressivity of known syndromes. Few studies discuss diagnosis and genetic counseling for fetuses identified with multiple CNVs.
Wei Wang, Jing Wang, Ye Shi, Bin Zhang
doaj   +1 more source

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes [PDF]

, 2018
Background The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a ''Systematic Survey of Balanced ...
Abu-Omar, Bailey, Benson, Bjelland, Browne, Browning, Cader, Deininger, Delaneau, Dermitzakis, Dixon, Eldadah, Elliott, Festenstein, Gajecka, Giglio, Gu, Herman-Bert, Jeggo, Johnson, Karkera, Kilarski, Kurahashi, Li, Lieber, Luukkonen, Maarel, Maitra, Mattick, Mefford, Metcalf, Milot, Ou, Parolin Schnekenberg, Pfeiffer, Pizzuti, Purcell, Pyle, Rajakulendran, Rauch, Ray, Rudd, Sargent, Sharp, Sheridan, Shishido, Sobue, South, Steckley, Tomita-Mitchell, Traylor, Urayama, Viskochil, Warburton, Waters, Waters, Ye, Yu, Zeitouni, Zhang   +59 more
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Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes [PDF]

, 1988
Chromosome aberrations in two glioma cell lines were analyzed using biotinylated DNA library probes that specifically decorate chromosomes 1, 4, 7, 18 and 22 from pter to qter.
A Al-Saadi, AG Knudson, B Trask, CD Bloomfield, D Pinkel, D. C. Ward, F Mitelman, G Rappold, GM Brodeur, GT Merlino, H Harris, H Yamazaki, HE McDermid, J Burns, J. Borden, JA Rey, JE Landegent, JR Shapiro, JS Waye, L Larizza, L Manuelidis, L Manuelidis, L Manuelidis, L. Manuelidis, LC Showe, M Schardin, MF Hansen, NB Atkin, P Lichter, P. Lichter, SH Bigner, SH Bigner, SH Bigner, T Boveri, T Cremer, T Cremer, T. Cremer, TA Libermann, W Henn   +38 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

Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]

, 2006
Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko, Morishima, Tsuneo, Ninomiya, Shinsuke, Shinozuka, Masako, Une, Tomoka, Yokoyama, Yuji   +5 more
core   +1 more source

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

Egyptian Journal of Medical Human Genetics, 2016
We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular
J.A. Avina Fierro, D.A. Hernandez Avina
doaj   +1 more source

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples [PDF]

, 2009
Background: It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in up to 50% of first trimester miscarriages, chromosomal abnormalities can be ...
Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman, T Hassold, V Jobanputra, M Goddijn, KA Bell, B Lomax, J Menasha, DL Bruno, D Diego-Alvarez, D Diego-Alvarez, DN Azmanov, M Daniely, B Fritz, Y Hu, A Kallioniemi, AC Tabet, J Berezowsky, B Menten, D Pinkel, S Solinas-Toldo, B Menten, K Benirschke, M Benkhalifa, M Nagaishi, AJ Schaeffer   +30 more
core   +1 more source

Steady-state MreB helices inside bacteria: dynamics without motors [PDF]

, 2007
Within individual bacteria, we combine force-dependent polymerization dynamics of individual MreB protofilaments with an elastic model of protofilament bundles buckled into helical configurations.
Andrew D. Rutenberg, B. Alberts, J. Howard, Jun F. Allard, S. S. Andrews, S. S. Antman, X. Yao   +6 more
core   +2 more sources

Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12

Case Reports in Obstetrics and Gynecology, 2015
Case Details. We report rare familial unbalanced translocation of chromosomes 7 and 12, which was diagnosed prenatally at 20+3 weeks of gestation. Woman’s partner had been tested in the past and was found to be a carrier of a balanced translocation; his ...
Berrin Tezcan, Foteini Emmanouella Bredaki   +1 more
doaj   +1 more source

Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis

Frontiers in Genetics, 2022
Background: Balanced chromosomal aberrations, especially balanced translocations, can cause infertility, recurrent miscarriage or having chromosomally defective offspring.
Zhenle Pei, Ke Deng, Caixai Lei, Danfeng Du, Guoliang Yu, Xiaoxi Sun, Congjian Xu, Shuo Zhang   +7 more
doaj   +1 more source