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Chimeric transcripts resulting from complex duplications in chromosome Xq28
(Springer-Verlag, 2016)
Genome assembly of the cichlid fish Astatotilapia latifasciata with focus in population genomics of B chromosome polymorphism
(Universidade Estadual Paulista (Unesp), 2017-08-11)
B chromosomes (Bs) are additional to the standard regular chromosome set (As), and present in all groups of eukaryotes. A reference genome is key to understand genomics aspects of an organism. Here, we present the de novo ...
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
(Thieme Gruppe, 2016)
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical ...
Duplication 9p and their implication to phenotype
(Biomed Central Ltd, 2014-12-20)
Background: Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete ...
First Report of a Small Supernumerary der(8;14) Marker Chromosome
(Karger, 2013-01-01)
Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same metaphase spread. Most of them are unexpectedly detected in routine ...
Sex-chromosome Variability in Zygodontomys lasiurus (Rodentia, Cricetidae)
(1983-01-01)
Cytogenetic studies were performed on 26 specimens of the rodent Zygodontomys lasiurus (2n=34, 2n=33/34), collected in the State of São Paulo, Brazil. The G- and C-band patterns of mitotic chromosomes were studied and the ...
Cytological characterization of an Aspergillus nidulans mutant from a strain with chromosomic duplication
(Sociedade Brasileira de Microbiologia, 2010)
A development mutant, named V103, was obtained spontaneously from the A strain of A. nidulans. The A strain contains a duplicated segment of chromosome I that has undergone translocation to chromosome II (I → II). ...
Pure duplication 21q21.2?qter due to a rea(21) in a down syndrome girl. Remarks on nomenclature
(2012)
We report on an 8-year-old girl with a typical Down syndrome phenotype and a 46,XX,rea(21)(qter?p12::q21.2?qter).ish rea(21)(qter?p12::q21. 2?qter)(LSI 21++,AML1++) karyotype; the mother had normal chromosomes but the ...
Pure duplication 21q21.2→qter due to a rea(21) in a down syndrome girl. Remarks on nomenclature
(2012)
We report on an 8-year-old girl with a typical Down syndrome phenotype and a 46,XX,rea(21)(qter→p12::q21.2→qter).ish rea(21)(qter→p12::q21. 2→qter)(LSI 21++,AML1++) karyotype; the mother had normal chromosomes but the ...