Results 41 to 50 of about 5,996,346 (272)

Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma

Translational Neuroscience, 2015
We describe an as yet unreported neocentric small supernumerary marker chromosome (sSMC) derived from chromosome 1p21.3p21.2. It was present in 80% of the lymphocytes in a male patient with intellectual disability, severe speech deficit, mild dysmorphic ...
Brečević Lukrecija, Rinčić Martina, Krsnik Željka, Sedmak Goran, Hamid Ahmed B., Kosyakova Nadezda, Galić Ivan, Liehr Thomas, Borovečki Fran   +8 more
doaj   +1 more source

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

Molecular Cytogenetics, 2008
Background Small supernumerary marker chromosomes (sSMC) occur in 0.075% of unselected prenatal and in 0.044% of consecutively studied postnatal cases. Individuals with sSMC present with varying phenotype, ranging from normal to extremely mild or severe ...
Pramathan R, Padariyakam Shabeer, Mani Sara, Al-Rowaished Eman EM, Naveed Sehba, Jacob Preenu S, Malhotra Ashok K, Murthy Sabita K, Nath Ravi, Al-Ali Mahmoud, Al-Gazali Lihadh   +10 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 3.
Chih-Ping Chen, Tsang-Ming Ko, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Chen-Wen Pan, Wayseen Wang   +8 more
doaj   +1 more source

Small supernumerary marker chromosomes – an update

Molecular Cytogenetics, 2014
Genotype-phenotype correlations in patients with small supernumerary marker chromosomes (sSMC) are still difficult to asses. The presently known influence of chromosomal imbalance induced by sSMC size and origin, mosaicism of sSMC in different cells of the body and uniparental disomy (UPD) of sSMC’s sister chromosomes on the clinical outcome is ...
openaire   +2 more sources

Small Supernumerary Marker Chromosomes 1 With a Normal Phenotype

Journal of the Chinese Medical Association, 2010
Small supernumerary marker chromosomes (sSMCs) are a major problem in prenatal cytogenetic diagnostics. Over two-thirds of cases carrying an sSMC derived from chromosome 1 are associated with clinical abnormalities. We report 3 further cases of such sSMCs that did not show any clinical abnormalities.
Liehr, Thomas, Wegner, Rolf-Dieter, Stumm, Markus, Martin, Thomas, Gillessen-Kaesbach, Gabriele, Kosyakova, Nadezda, Ewers, Elisabeth, Hamid, Ahmed Basheer, von Eggeling, Ferdinand, Hentschel, Julia, Ziegler, Monika, Weise, Anja   +11 more
openaire   +2 more sources

Small supernumerary marker chromosomes and their correlation with specific syndromes

Advanced Biomedical Research, 2015
A small supernumerary marker chromosome (sSMC) is a structurally abnormal chromosome. It is an additional chromosome smaller than one chromosome most often lacking a distinct banding pattern and is rarely identifiable by conventional banding cytogenetic analysis.
Jafari-Ghahfarokhi, Hamideh, Moradi-Chaleshtori, Maryam, Liehr, Thomas, Hashemzadeh-Chaleshtori, Morteza, Teimori, Hossein, Ghasemi-Dehkordi, Payam   +5 more
openaire   +2 more sources

A case report of a meiotic segregation study on a small supernumerary marker chromosome [PDF]

, 2007
Small supernumerary marker chromosomes (sSMCs) have been described from all human chromosomes with different sizes and shapes. However, it is difficult to know the clinical manifestations associated with them, because such knowledge depends on the ...
Giorlandino, Claudio, Mesoraca, Alvaro, Cignini, Pietro, Bizzocco, Domenico, Gabrielli, Ivan   +4 more
core   +1 more source

Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes [PDF]

Molecular Cytogenetics, 2020
Abstract Background Small supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in children or fetuses with hypoevolutism and infertile adults. sSMCs are usually observed first by karyotyping, and further analysis of their molecular origin is important in clinical practice. Next-
Tingting Li, Haiquan Sang, Guoming Chu, Yuanyuan Zhang, Manlong Qi, Xiaoliang Liu, Wanting Cui, Yanyan Zhao   +7 more
openaire   +3 more sources

Differential Water Networks Guide Selectivity Optimization of a Cell Active BPTF Inhibitor in Neuroblastoma

Angewandte Chemie, EarlyView.
BZ2 is a second‐generation Bromodomain PHD finger Transcription Factor (BPTF) inhibitor with improved selectivity over Class I and Class IV BRD off‐targets identified in our previously reported inhibitor, BZ1. Structural analyses reveal that water network engagement is key to this selectivity.
Kesavan Babu, Chun‐Ju Tsou, Sourav Das, Liying Fan, Anasuya Pal, Molly Sneddon, Timothy R. Stachowski, Priyanka Samanta, Stanley Nithianantham, Caroline Buchholz, Shi Zhang, Xiang Fu, Rahul S. Kathayat, Wenwei Lin, Yongtao Li, Lei Yang, Taosheng Chen, Marcus Fischer, Anang A. Shelat, William C. K. Pomerantz   +19 more
wiley   +2 more sources

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