Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia
We report an infertile man bearing an unusual balanced (X;22) translocation, with a centromeric X breakpoint generating a derivative pseudodicentric chromosome psu dic(22;X). Extensive cytogenetic analyses were necessary to determine the precise nature of the derivative chromosome. The likely cause of the reproductive phenotype of the patient is discussed based on meiotic chromosomal conformation.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - May 24, 2022 Category: Genetics & Stem Cells Source Type: research
Germline-Restricted Chromosomes and Autosomal Variants Revealed by Pachytene Karyotyping of 17 Avian Species
Karyotypes of less than 10% of bird species are known. Using immunolocalization of the synaptonemal complex, the core structure of meiotic chromosomes at the pachytene stage, and centromere proteins, we describe male pachytene karyotypes of 17 species of birds. This method enables higher resolution than the conventional analyses of metaphase chromosomes. We provide the first descriptions of the karyotypes of 3 species (rook, Blyth ’s reed warbler, and European pied flycatcher), correct the published data on the karyotypes of 10 species, and confirm them for 4 species. All passerine species examined have highly conservati...
Source: Cytogenetic and Genome Research - May 20, 2022 Category: Genetics & Stem Cells Source Type: research
Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study
In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequencing (WES) targeting a panel of 158 genes related to SNHL, aiming to evaluate the diagnostic yield of this methodological approach and to report the spectrum of variants. Patients with either nonsyndromic or syndromic SNHL were included. Also, patients were previously screened for variants in theGJB2 gene and for duplications/deletions in theGJB6 gene. Causative variants in 11 different genes were identified in 15 (21.1%) out of 71 probands, 5 of which had associated syndromes. In 6 other patients (8.5%), presumptive causative var...
Source: Cytogenetic and Genome Research - May 17, 2022 Category: Genetics & Stem Cells Source Type: research
Putative Condition-Dependent Viability Selection in Wild-Type Stocks of < b > < i > Drosophila pseudoobscura < /i > < /b >
Meiotic recombination rates vary in response to intrinsic and extrinsic factors. Recently, heat stress has been shown to reveal plasticity in recombination rates inDrosophila pseudoobscura. Here, a combination of molecular genotyping and X-linked recessive phenotypic markers were used to investigate differences in recombination rates due to heat stress. In addition, haplotypes from the genetic crosses were compared to test if they deviated from equal proportions, which would indicate viability selection. To avoid this potential bias, SNP genotyping markers overlapping the regions assayed with mutant markers were used to fu...
Source: Cytogenetic and Genome Research - May 6, 2022 Category: Genetics & Stem Cells Source Type: research
Karyotype Evolution of Talking Thorny Catfishes < b > < i > Anadoras < /i > < /b > (Doradidae, Astrodoradinae): A Process Mediated by Structural Rearrangements and Intense Reorganization of Repetitive DNAs
Anadoras is a thorny catfish genus widespread through the Amazon and Paraguay river basins. It includes 2 nominal species,A. grypus andA. weddellii, plusAnadoras sp. “araguaia,” an undescribed species only recognized morphologically. SinceAnadoras occupies a basal position within the Astrodoradinae phylogeny, it is crucial to identify its cytogenetic features to comprehend the mechanisms involved in the chromosomal diversification of this subfamily. Therefore, we performed a comparative cytogenetic analysis including all species ofAnadoras. Furthermore, we applied a species delimitation analysis based on 600 bp of the ...
Source: Cytogenetic and Genome Research - May 2, 2022 Category: Genetics & Stem Cells Source Type: research
Cytogenomic Analysis of Long-Term Epilepsy-Associated Tumors Using an Array-Based CGH Strategy
A palette of copy number changes in long-term epilepsy-associated tumors (LEATs) have been reported, but the data are heterogeneous. To better understand the molecular basis underlying the development of LEATs, we performed array-comparative genomic hybridization analysis to investigate chromosomal imbalances across the entire genome in 8 cases of LEATs. A high number of aberrations were found in 4 patients, among which deletions predominated. Both whole-chromosome and regional abnormalities were observed, including monosomy 19, deletion of 1p, deletions of 4p, 12p, and 22q, and gain of 20p. The common altered regions are ...
Source: Cytogenetic and Genome Research - April 27, 2022 Category: Genetics & Stem Cells Source Type: research
Meiotic Segregation of an Isodicentric Derived from Chromosome 15 in Sperm of a Patient with Mosaic Karyotype: Case Report and Review of the Literature
This study aimed at characterizing a supernumerary marker chromosome in a nonconsanguineous infertile couple and analyzing its meiotic segregation in sperm by multicolor FISH. The male partner ’s karyotype was mos 47,XY,+idic(15)(pter→q11.1::q11.1→pter)[6]/46,XY[24].ish idic(15)(NOR+,D15Z3+,SNRPN–,D15Z3+,NOR+). In triple FISH using CEP 15, BAC 15, and BAC 21 probes, 4,227 spermatozoa of the patient were analyzed, and the sSMC was detected in only 0.66% of spermatozoa. In triple FI SH employing CEP X, CEP Y, and BAC 18 probes, 2,008 spermatozoa of the patient were analyzed. The frequency of disomic and diploid sperm...
Source: Cytogenetic and Genome Research - April 7, 2022 Category: Genetics & Stem Cells Source Type: research
Downregulation of lncRNA FOXD2-AS1 Confers Radiosensitivity to Gastric Cancer Cells via miR-1913/SETD1A Axis
In conclusion, knocking down FOXD2-AS1 enhances the radiosensitivity of GC cells by sponging miR-1913 to upregulate SETD1A expression.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - March 30, 2022 Category: Genetics & Stem Cells Source Type: research
Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome
We report two unrelated patients with 8q23q24 deletions, characterized by cytogenomic techniques, with one of them, to our knowledge, carrying the smallest deletion reported in classic LGS cases. We assessed the pathogenicity of the deletion of genes within the 8q23q24 region and reviewed other molecularly confirmed cases from the literature. Our findings suggest a 3.2-Mb critical region for a typical presentation of the syndrome, emphasizing the contribution of theTRPS1,RAD21, andEXT1 genes ’ haploinsufficiency, and facial dysmorphisms as well as bone anomalies as the most frequent features among patients with LGS. We a...
Source: Cytogenetic and Genome Research - March 15, 2022 Category: Genetics & Stem Cells Source Type: research
Identification of Centromere-Specific Repeats in the Zebra Finch Genome
Tandem repetitive sequences represent a significant part of many genomes but remain poorly characterized due to various methodological difficulties. Here, we describe the tandem repeat composition in the genome of zebra finch,Taeniopygia guttata, a species that has long served as an animal model, primarily in neurobiology and comparative genomics. Using available genome sequencing raw read datasets, we bioinformatically reconstructed consensus sequences of several tandem repeats and proved that the most abundant ones,Tgut191A andTgut716A, are centromere-associated in chromosomes. Each centromeric region can have a differen...
Source: Cytogenetic and Genome Research - March 11, 2022 Category: Genetics & Stem Cells Source Type: research
Retraction Statement
Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - March 1, 2022 Category: Genetics & Stem Cells Source Type: research
Erratum
Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - February 22, 2022 Category: Genetics & Stem Cells Source Type: research
Contents Col. 161, 2021
Cytogenet Genome Res 2021;161:I –VI (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - February 10, 2022 Category: Genetics & Stem Cells Source Type: research
Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication
This report also reviews the overlapping features in previously published cases of 16p11.2 triplication, and possible implications are discussed.Cytogenet Genome Res (Source: Cytogenetic and Genome Research)
Source: Cytogenetic and Genome Research - February 9, 2022 Category: Genetics & Stem Cells Source Type: research
Chromosome Painting in < b > < i > Lonchorhina aurita < /i > < /b > Sheds Light onto the Controversial Phylogenetic Position of Sword-Nosed Bats (Chiroptera, Phyllostomidae)
The subfamily Lonchorhininae encompasses 6 species of sword-nosed bats (Lonchorhina) and is one of the most problematic lineages in the Neotropical leaf-nosed bats (Phyllostomidae) phylogeny. There are at least 5 different hypotheses to explain when the subfamily diverged from the remaining phyllostomids, but none with robust statistical support. Here, we generated a chromosome painting homology map ofLonchorhina aurita karyotype (2n = 32 and FN = 60) using whole-chromosome probes ofMacrotus californicus (MCA; 2n = 40 and FN = 60). We placed the karyotype changes ofL. aurita in a phylogenetic context to discuss the most li...
Source: Cytogenetic and Genome Research - January 28, 2022 Category: Genetics & Stem Cells Source Type: research
