Results 21 to 30 of about 1,418 (200)

Paternal UPD14 with sSMC derived from chromosome 14 in Kagami–Ogata syndrome

Chromosome Research, 2022
Abstract Uniparental disomy (UPD) has been associated with several well-characterized disorders due to abnormal imprinting of the underlying genes. Depending on the parent-of-origin, paternal and maternal UPD are frequently associated with clinically distinct imprinting disorders.
Jiyong, Wang, Angie, Lichty, Jill, Johnson, Chandler, Couick, Mary Alice, Moore, Beth, Christensen, Khirston, Howard, Jennifer A, Lee, Barbara R, DuPont, Lola, Clarkson, Benjamin A, Hilton   +10 more
openaire   +2 more sources

Small supernumerary marker chromosomes derived from chromosome 14 and/or 22

Molecular Cytogenetics, 2021
Small supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype.
Thomas Liehr, Heather E. Williams, Monika Ziegler, Stefanie Kankel, Niklas Padutsch, Ahmed Al-Rikabi   +5 more
doaj   +1 more source

Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis

Molecular Cytogenetics, 2023
Background Small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome of unknown origin by conventional cytogenetics. The understanding of clinical significance of sSMC is still limited in prenatal diagnosis.
Yang Yang, Wang Hao
doaj   +1 more source

Small supernumerary marker chromosomes derived from human chromosome 11

Frontiers in Genetics, 2023
Introduction: With only 39 reported cases in the literature, carriers of a small supernumerary marker chromosome (sSMC) derived from chromosome 11 represent an extremely rare cytogenomic condition.Methods: Herein, we present a review of reported sSMC(11),
Thomas Liehr, Monika Ziegler, Luisa Person, Stefanie Kankel, Niklas Padutsch, Anja Weise, Jörg Paul Weimer, Heather Williams, Susana Ferreira, Joana B. Melo, Isabel M. Carreira   +10 more
doaj   +1 more source

First case of two supernumerary markers derived from chromosome 5 and chromosome 8

Molecular Cytogenetics, 2022
Background Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone.
Roberta Giansante, Chiara Palka Bayard De Volo, Melissa Alfonsi, Elisena Morizio, Paolo Guanciali Franchi   +4 more
doaj   +1 more source

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

Molecular Cytogenetics, 2009
Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar.
Vermeesch Joris, Andrieux Joris, Desai Manisha, Sheth Jayesh, Weise Anja, Kosyakova Nadezda, Ewers Elisabeth, Sheth Frenny, Hamid Ahmed B, Ziegler Monika, Liehr Thomas   +10 more
doaj   +1 more source

Smooth Sliding Mode Control for Path Following of Underactuated Surface Vehicles Based on LOS Guidance

Journal of Marine Science and Engineering, 2023
In this paper, a solution to the problem of following a curved path for underactuated unmanned surface vehicles (USVs) with unknown sideslip angle and model uncertainties is studied.
Yuchao Wang, Yinsong Qu, Shiquan Zhao, Ricardo Cajo, Huixuan Fu   +4 more
doaj   +1 more source

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature [PDF]

, 2008
Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to characterize their chromosomal origin.
Riegel, Mariluce, Kelbova, Christina, Liehr, Thomas, Volleth, Marianne, Gödde, Elisabeth, Mrasek, Kristin, Aktas, Dilek, Tittelbach, Hanne, Polityko, Anna, Fuster, Carme, Reich, Daniela, Hehr, Ute, Küpferling, Peter, Reising-Ackermann, Gisela, Ewers, Elisabeth, Duba, Hans-Christoph, Martin, Thomas, Santos, Monica, Weise, Anja, Schulze, Bernt, Dufke, Andreas, Manvelyan, Marina, Mazaurik, Marie-Luise, Belitz, Britta, Schreyer, Isolde, Anderson, Jasen, Köhler, Sigrid, Pellestor, Franck   +27 more
core   +3 more sources

Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review

Frontiers in Genetics, 2019
Small supernumerary marker chromosomes (sSMCs) are present in ∼3.3 million of presently living human beings. The majority of these sSMC carriers (i.e. ∼2.1 million) will never know about their condition, as they are perfectly healthy and just may learn ...
Thomas Liehr, Ahmed Al-Rikabi
doaj   +1 more source

Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome

Frontiers in Pediatrics, 2022
BackgroundThe aim of this study was to explore the source and morphology of a small supernumerary marker chromosome (sSMC) from karyotype analysis of a patient with a unique case of mosaic Turner syndrome.
Chao Li, Weiyao Luo, Tingting Xiao, Xingkun Yang, Miaoling Ou, Linghua Zhang, Xiang Huang, Xiaodan Zhu   +7 more
doaj   +1 more source