Results 11 to 20 of about 5,996,346 (272)

Small supernumerary marker chromosomes derived from human chromosome 11 [PDF]

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   +5 more sources

Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age [PDF]

Clinical Medicine Insights: Case Reports, 2015
The detection of supernumerary marker chromosomes (SMCs) in prenatal diagnosis is always a challenge. In this study, we report a paternally inherited case of a small SMC(15) that was identified in prenatal diagnosis due to advanced maternal age.
Bruna C. S. Melo, Ana Portocarrero, Cláudia Alves, André Sampaio, Luisa Mota-Vieira   +4 more
doaj   +3 more sources

Unexpected results in the constitution of small supernumerary marker chromosomes [PDF]

European Journal of Medical Genetics, 2012
Traditional approaches for the classification of Small Supernumerary Marker Chromosomes (sSMC), mostly based on FISH techniques, are time-consuming and not always sufficient to fully understand the true complexity of this class of rearrangements.
VETRO, ANNALISA, ARRIGO, GIULIA, ZUFFARDI, ORSETTA, Manolakos E, Petersen MB, Thomaidis L, Liehr T, Croci G, Franchi F, Marinelli M, Meneghelli E, Bello BD, Cesari S, Iasci A   +13 more
core   +9 more sources

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

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   +4 more sources

Another Small Supernumerary Marker Chromosome Derived from Chromosome 9 in a Klinefelter Patient

West Indian Medical Journal, 2012
Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype).
Yakut, T., Ture, M., Karkucak, M., Gorukmez, O., Gorukmez, O., Gulten, T.   +5 more
core   +5 more sources

Small supernumerary marker chromosomes: A legacy of trisomy rescue? [PDF]

Human Mutation, 2018
We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same ...
Kurtas N. E., Xumerle L., Leonardelli L., Delledonne M., Brusco A., Chrzanowska K., Schinzel A., Larizza D., Guerneri S., Natacci F., Bonaglia M. C., REHO, PAOLO, Manolakos E., Mattina T., Soli F., Provenzano A., Al-Rikabi A. H., ERRICHIELLO, ELVIRA, Nazaryan-Petersen L., Giglio S., Tommerup N., Liehr T., Zuffardi O.   +22 more
core   +11 more sources

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 18 and Associated With a Reciprocal Translocation Involving Chromosomes 17 And 18

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to difficulties in genetic counseling, and requires molecular cytogenetic technologies such as spectral karyotyping, fluorescence in situ hybridization, multicolor ...
Chih-Ping Chen, Chyi-Chyang Lin, Yi-Ning Su, Fuu-Jen Tsai, Ju-Ting Chen, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town, Li-Feng Chen, Pei-Chen Wu, Wayseen Wang   +10 more
doaj   +2 more sources

Supernumerary Marker Chromosome Identified in Asian Elephant (Elephas maximus)

Animals, 2023
We identified a small, supernumerary marker chromosome (sSMC) in two phenotypically normal Asian elephants (Elephas maximus): a female (2n = 57,XX,+mar) and her male offspring (2n = 57,XY,+mar). sSMCs are defined as structurally abnormal chromosomes that
Halina Cernohorska, Svatava Kubickova, Petra Musilova, Miluse Vozdova, Roman Vodicka, Jiri Rubes   +5 more
doaj   +2 more sources

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1–q12.1 in a healthy man [PDF]

Molecular Cytogenetics, 2008
Here we report on a healthy and fertile 30 years old man, who was carrier of a small supernumerary marker chromosome (sSMC). The application of molecular techniques such as fluorescence in situ hybridisation (FISH), microdissection and reverse painting ...
Rodríguez Laura, Liehr Tomas, Martínez-Fernández María, Lara Ana, Torres Antonio, Martínez-Frías María   +5 more
doaj   +2 more sources

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   +3 more sources