Results 91 to 100 of about 5,996,346 (272)

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. Materials and Methods: A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang   +9 more
doaj   +1 more source

Cellular consequences of small supernumerary marker chromosome derived from chromosome 12: mosaicism in daughter and father. [PDF]

Braz J Med Biol Res, 2022
Freitas MO, Santos AOD, Barbosa LS, Figueiredo AF, Pellegrini SP, Santos NCK, Paiva IS, Rangel-Pozzo A, Sisdelli L, Mai S, Land MGP, Ribeiro MG, Ribeiro MCM.   +12 more
europepmc   +1 more source

Small Supernumerary Marker Chromosomes (sSMCs): A Spotlight on Some Nomenclature Problems [PDF]

Journal of Histochemistry & Cytochemistry, 2009
Dear Editor, The international system for human cytogenetic nomenclature (ISCN) contains recommendations that have been developed with the understanding that not all situations can be fully described using the recommended conventions. One problem not fixed in the new ISCN 2009 (Shaffer et al.
openaire   +2 more sources

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4

, 2012
[[abstract]]"Objective To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome, or r(4) by spectral karyotyping (SKY), fluorescence in situ ...
陳持平;Chen, Chih-Ping
core  

Case Report A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions

, 2010
We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife
T. Budak, Erdemoglu, M., Budak, T., H. İsi, M. Erdemoğlu, M. Balkan, Isi, H., A. Gedik, Gedik, A., Balkan, M.   +9 more
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

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

Front Pediatr, 2022
Li C, Luo W, Xiao T, Yang X, Ou M, Zhang L, Huang X, Zhu X.   +7 more
europepmc   +1 more source

Detection and Genetic Analysis of Small Supernumerary Marker Chromosomes in Prenatal Diagnosis

Cytogenetic and Genome Research
Introduction: Small supernumerary marker chromosomes (sSMCs) are small structurally abnormal chromosomes whose origin and structure are difficult to determine by conventional cytogenetic banding techniques. The aims of the study were to analyze sSMCs discovered in prenatal diagnosis, explore the origin and clinical significance of fetal sSMCs, and ...
Jiangfeng, Qin, Yanfei, Zeng, Yinghua, Luo, Biyu, Lu, Jiaolian, Ya, Pengfei, Cai, Ling, Zhang, Yan, Mei, Dejian, Yuan, Xiaoni, Wei, Yuchan, Xu   +10 more
openaire   +2 more sources

Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation

, 2003
Trisomy rescue is one of various proposed mechanisms in formation of supernumerary small marker chromosomes (SMC) and uniparental disomy (UPD). In the present report a small de novo marker chromosome derived from chromosome 14 or 22 was diagnosed at ...
Bartels, I., Starke, H., Liehr, Thomas, Glaubitz, R., von Eggeling, F., Burfeind, Peter, Schlueter, G.   +6 more
core   +1 more source

Late INa as a Therapeutic Target: New Strategies, Computational Modelling, Drug Development, and Clinical Translation

Medicinal Research Reviews, EarlyView.
ABSTRACT The Nav1.5 channel, a major isoform of voltage‐gated sodium ion channel, is mainly found in ventricular cardiomyocytes, playing a key role in generating essential cardiac action potentials for normal heart rhythms. Mutations in Nav1.5 have been associated with severe heart conditions such as long QT syndrome, Brugada syndrome, cardiac ...
Arkapravo Chattopadhyay, Lynn C. Lunsonga, Peter E. Light, Khaled Barakat   +3 more
wiley   +1 more source