Incidence and Types of Fetal Chromosomal Abnormalities in First Trimester of Thai Pregnant Women between Miscarriages and Intrauterine Survivals
Abortion is a common pregnancy complication. Fetuses with several types of chromosomal abnormalities are aborted during the first trimester, while others have a better chance of surviving. This research aims to study and compare the incidence and types of fetal chromosomal abnormalities during the first trimester of Thai pregnant women between miscarriages and intrauterine survivals. Cytogenetic and BACs-on-Beads ™ assays were assessed from 2010 to 2020 in Ramathibodi Hospital using first trimester samples of 265 chorionic villi as a retrospective study. Chromosomal abnormalities were observed in 135 cases (50.94%) inclu...
Source: Cytogenetic and Genome Research - March 1, 2023 Category: Genetics & Stem Cells Source Type: research
Cytogenetic analysis of the fungus-farming ant Cyphomyrmex rimosus (Spinola, 1851) (Formicidae: Myrmicinae: Attini) highlights karyotypic variation
In this study, we characterized the karyotype of C. rimosus from Vi çosa, Minas Gerais state, southeastern Brazil using classical and molecular cytogenetic techniques to enrich the chromosomal information about Cyphomyrmex. The karyotype of C. rimosus from the rainforest of southeastern Brazil (2n = 22, 18m + 4sm) notably contrasts with that previously described fo r this species in Panama (2n = 32). This intraspecific chromosomal variation suggests the existence of a species complex within this taxon according to the previous hypothesis derived from morphological analysis. We detected GC-rich heterochromatic regions in C...
Source: Cytogenetic and Genome Research - February 27, 2023 Category: Genetics & Stem Cells Source Type: research
Patient with Mosaic Turner Syndrome and a Derivative X Chromosome with a Variant Triple X Diagnosis in Fetus: a Case Report
We present a case in which natural conception in a woman with identified 45,X/46,XX mosaicism resulted in a fetus with a gain of a derivative X chromosome. The unexpected fetal finding prompted further cytogenetic evaluation of the patient and subsequent identification of an additional cell line with the same derivative X chromosome, not observed in the initial study. To our knowledge, this is the first case in which further investigation of an abnormal noninvasive prenatal screen resulted in the identification of both maternal and fetal sex chromosome abnormality. We discuss the discordant finding, similar cases, and pote...
Source: Cytogenetic and Genome Research - February 14, 2023 Category: Genetics & Stem Cells Source Type: research
Cytogenetic Abnormalities in Multiple Myeloma: Incidence, prognostic significance and geographic heterogeneity in Indian and western population.
Multiple Myeloma(MM) is genetically complex and heterogeneous neoplasm in which cytogenetics is major genetic factor which plays an important role in the risk stratification of disease. High risk MM based upon cytogenetic classification includes primary IGH translocations t(4;14), t(14;16), t(14;20), and secondary progressive aberrations such as gain/Amp(1q) , 1p deletion , del(17p) hypodiploidy. Several studies have proved that interphase FISH can efficiently detect primary as well as secondary cryptic aberrations very efficiently in lowest 5%- 10% abnormal plasma cells population. Present large scale study was undertake...
Source: Cytogenetic and Genome Research - February 13, 2023 Category: Genetics & Stem Cells Source Type: research
Heterozygous Deletion of Long Noncoding RNA AK127244 Is a Susceptibility Factor for Neurodevelopmental Delay
Neurodevelopmental syndromes due to copy number variation are well-known clinical entities. While the numerical variation of gene-harboring regions has been widely investigated at both molecular and clinical levels, much less is understood about unbalanced expression of long noncoding RNAs. Few studies have been performed on the clinical consequences of such unbalanced expression. Heterozygous deletions ofNRXN1 have been well described to cause neuropsychological features. Heterozygous deletion of adjacent long noncoding RNA AK127244, either isolated or combined with partialNRXN1 deletion, was recently reported in associat...
Source: Cytogenetic and Genome Research - February 9, 2023 Category: Genetics & Stem Cells Source Type: research
Confirmation of Natural Hybridization between < b > < i > Kengyilia < /i > < /b > (StStYYPP) and < b > < i > Campeiostachys < /i > < /b > (StStYYHH) (Triticeae: Poaceae) Based on Morphological and Molecular Cytogenetic Analyses
Natural hybridization has been frequently observed in Triticeae; however, few studies have investigated the origin of natural intergeneric Triticeae hybrids. In the present study, we discovered three putative hybrid Triticeae plants in the Western Sichuan Plateau of China. Morphologically, the putative hybrids were intermediate betweenKengyilia melanthera (2n = 6x = 42; StStYYPP) andCampeiostachys dahurica var.tangutorum (2n = 6x = 42; StStYYHH) with greater plant height and tiller number. Cytological analyses demonstrated that the hybrids were hexaploid with 42 chromosomes (2n = 6x = 42). At metaphase I, 12.10 –12.58 bi...
Source: Cytogenetic and Genome Research - February 1, 2023 Category: Genetics & Stem Cells Source Type: research
Biased Clonal Evolution in Acute Promyelocytic Leukemia through Imbalances Affecting the der(17) but Not the der(15) Chromosome: Report of Two Cases
Acute promyelocytic leukemia (APL) is characterized by the chromosomal translocation t(15;17)(q24;q21), raising two hybrid genes:PML::RARA andRARA::PML. There is a biased clonal evolution in APL since imbalances affecting the der(15) chromosome (the one that carries the transformingPML::RARA gene) have never been reported; instead, imbalances of the der(17), mainly in form of an ider(17)(q10), have been repeatedly documented. We here present two cases with APL who acquired an ider(17)(q10) as a secondary chromosomal change. The presence of the ider(17)(q10) implies several genomic consequences with potential to fuel tumor ...
Source: Cytogenetic and Genome Research - February 1, 2023 Category: Genetics & Stem Cells Source Type: research
Molecular and Chromosomal Evolution of < b > < i > DsTc1_5 < /i > < /b > and < b > < i > DsPogo_8 < /i > < /b > Elements ( < b > < i > Tc1-Mariner < /i > < /b > ) in Species of the < b > < i > Dichotomius < /i > < /b > Genus (Coleoptera: Scarabaeidae): Contributions to the Speciation Process
The objective of this study was to verify the interpopulational and interspecific conservation/variation ofTc1-Mariner elements (possibly autonomous) inDichotomius species, aiming to identify possible contributions in the speciation process of this group. The analysis was performed on four species ofDichotomius, belonging to theSelenocopris subgenus. We verified the presence of theDsPogo_8 andDsTc1_5 elements by PCR and sequencing. We also isolated and sequenced the 28S and 16S rRNA genes aiming at the phylogenetic reconstruction of the analyzed species. Chromosomal mapping of TEsDsTc1_5 andDsPogo_8 was performed by fluore...
Source: Cytogenetic and Genome Research - February 1, 2023 Category: Genetics & Stem Cells Source Type: research
