Results 41 to 50 of about 1,000,004 (376)
A family case of fertile human 45,X,psu dic(15;Y) males [PDF]
, 2006 We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M +29 more
core +1 more source
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
Molecular Cytogenetics, 2019 Purpose To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether any features of reciprocal ...
Jie Wang +6 more
doaj +1 more source
Chromosome translocations in multiple myeloma [PDF]
Oncogene, 2001 Multiple myeloma (MM), a malignant tumor of somatically mutated, isotype-switched plasma cells (PC), usually arises from a common benign PC tumor called Monoclonal Gammopathy of Undetermined Significance (MGUS). MM progresses within the bone marrow, and then to an extramedullary stage from which MM cell lines are generated.
P L, Bergsagel, W M, Kuehl
openaire +2 more sources
Molecular cytotaxonomy of primates by chromosomal in situ suppression hybridization [PDF]
, 1990 A new strategy for analyzing chromosomal evolution in primates is presented using chromosomal in situ suppression (CISS) hybridization. Biotin-labeled DNA libraries from flow-sorted human chromosomes are hybridized to chromosome preparations of ...
Anna Jauch +22 more
core +1 more source
Dynamics of Tumor Heterogeneity Derived from Clonal Karyotypic Evolution
Cell Reports, 2015 Numerical chromosomal instability is a ubiquitous feature of human neoplasms. Due to experimental limitations, fundamental characteristics of karyotypic changes in cancer are poorly understood.
Ashley M. Laughney +3 more
doaj +1 more source
Journal of Biological Chemistry, 2012 Background: The mechanism of fragility at mcr during t(14;18) translocation is not known. Results: RAGs nick mcr using a unique mechanism involving the CCACCTCT motif, which is critical for its fragility.
Mridula Nambiar, S. Raghavan
semanticscholar +1 more source
Novel t(7;10)(p22;p24) along with NPM1 mutation in patient with relapsed acute myeloid leukemia
Annals of Saudi Medicine, 2013 Chromosomal abnormalities/genetic mutations associated with hematological malignancies alter the structure and function of genes controlling cell proliferation and differentiation through multiple and complex pathways, resulting different clinical ...
Santhi Sarojam +3 more
doaj +1 more source
Catastrophic chromosomal restructuring during genome elimination in plants. [PDF]
, 2015 Genome instability is associated with mitotic errors and cancer. This phenomenon can lead to deleterious rearrangements, but also genetic novelty, and many questions regarding its genesis, fate and evolutionary role remain unanswered.
Bradnam, Keith R +9 more
core +1 more source
Rhabdomyosarcoma: Advances in Molecular and Cellular Biology. [PDF]
, 2015 Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in childhood and adolescence. The two major histological subtypes of RMS are alveolar RMS, driven by the fusion protein PAX3-FKHR or PAX7-FKHR, and embryonic RMS, which is usually ...
Duan, Zhenfeng +5 more
core +3 more sources