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Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome
(Associação Brasileira de Divulgação Científica, 2008)
The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex ...
Tetrasomy 3q26.32-q29 Due To A Supernumerary Marker Chromosome In A Child With Pigmentary Mosaicism Of Ito
(Soc Brasil GeneticaRibeirão Preto, 2016)
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
(Biomed Central LtdLondonInglaterra, 2013)
Interclonal Variations in the Molecular Karyotype of Trypanosoma cruzi: Chromosome Rearrangements in a Single Cell-Derived Clone of the G Strain
(2013-05-07)
Trypanosoma cruzi comprises a pool of populations which are genetically diverse in terms of DNA content, growth and infectivity. Inter- and intra-strain karyotype heterogeneities have been reported, suggesting that chromosomal ...
Meningoencephalocele associated with chromosomal mosaicism in a neonate canis familiarisMeningoencefalocele asociado a mosaicismo cromosómico en un neonato Canis familiaris
(2021-02-23)
The results of a cytogenetic study carried out in two female Miniature Pinscher who died after birth, one affected with meningoencephalocele (MEC) and the other apparently normal, are presented. The analysis of 156 metaphases ...
A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
(ELSEVIER SCIENCE BVAMSTERDAM, 2012)
Submicroscopic chromosomal anomalies play an important role in the etiology of craniofacial malformations, including midline facial defects with hypertelorism (MFDH). MFDH is a common feature combination in several conditions, ...
Reproductive strategies and chromosomal aberrations affect survival in the Rivuliid fish Hypsolebias sertanejo
(Cambridge Univ Press, 2021-02-01)
Rivulidae comprises a family of fish largely distributed in Brazil that includes 201 species, of which 125 are considered endangered. This fact emphasizes the need for development of conservation strategies including studies ...
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion
(Springer, 2018-09-01)
A complex mosaicism of the short arm of chromosome 1 detected by SNP microarray analysis is described in a patient presenting a 4-Mb 1p36 terminal deletion and associated phenotypic features. The array pattern of chromosome ...
Chromosomal Variability in Akodon sp. (Rodentia, Cricetidae)
(1982-01-01)
In a sample of 30 specimens of Akodon sp. (Rodentia, Cricetidae), diploid numbers of 2n=24 and 2n=25 along with two mosaic cases with 2n=25/26 and 2n=23/24 were found. The inter and intraindividual chromosome variability ...