Results 21 to 30 of about 874,608 (238)

X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

Molecular Cytogenetics, 2017
Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome.
Alena S. Telepova, Svetlana A. Romanenko, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Dmitry V. Yudkin   +5 more
doaj   +1 more source

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

Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome

Case Reports in Genetics, 2015
Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma.
Guillaume Jedraszak, Aline Receveur, Joris Andrieux, Michèle Mathieu-Dramard, Henri Copin, Gilles Morin   +5 more
doaj   +1 more source

Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report

BMC Pediatrics, 2018
Background Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p is a rare chromosomal abnormality
Irene Plaza Pinto, Lysa Bernardes Minasi, Raphael Steckelberg, Claudio Carlos da Silva, Aparecido Divino da Cruz   +4 more
doaj   +1 more source

Non-invasive prenatal screening for Emanuel syndrome

Molecular Cytogenetics, 2020
Objective The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromosome microduplication detection ...
Yuqin Luo, Jie Lin, Yixi Sun, Yeqing Qian, Liya Wang, Min Chen, Minyue Dong, Fan Jin   +7 more
doaj   +1 more source

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

Molecular Cytogenetics, 2012
Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system.
Anguiano Arturo, Wang Boris T, Wang Shirong R, Boyar Fatih Z, Mahon Loretta W, El Naggar Mohamed M, Kohn Peter H, Haddadin Mary H, Sulcova Vladimira, Sbeiti Adam H, Ayad Mervat S, White Beverly J, Strom Charles M   +12 more
doaj   +1 more source

Molecular cytogenetic characterization of a de novo small supernumerary marker chromosome derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13;14) (q10;q10)

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 15 in a pregnancy with incidental detection of a maternal Robertsonian translocation of 45,XX,der(13; 14) (q10; q10 ...
Chih-Ping Chen, Ming Chen, Gwo-Chin Ma, Shun-Ping Chang, Schu-Rern Chern, Shin-Wen Chen, Fang-Tzu Wu, Meng-Shan Lee, Wayseen Wang   +8 more
doaj   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4

Stem Cell Research, 2022
Human induced pluripotent stem cell (iPSC) line, ICGi040-A, was obtained from skin fibroblasts derived from a male patient with mosaic ring small supernumerary marker chromosome 4 (sSMS(4)) and infertility.
M.M. Gridina, A.R. Nurislamov, J.M. Minina, M.E. Lopatkina, G.V. Drozdov, S.A. Vasilyev, L.I. Minaycheva, E.O. Belyaeva, T.V. Nikitina, A.A. Kashevarova, I.N. Lebedev, T.V. Karamysheva, N.B. Rubtsov, O.L. Serov   +13 more
doaj   +1 more source

Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report

Molecular Cytogenetics, 2022
Background Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is not been reported yet.
H. C. Manju, Supriya Bevinakoppamath, Deepa Bhat, Akila Prashant, Jayaram S. Kadandale, P. V. V. Gowri Sairam   +5 more
doaj   +1 more source