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Cytogenetic and Genome Research

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https://www.readbyqxmd.com/read/30508811/clinical-and-molecular-characterization-of-two-patients-with-cntn6-copy-number-variations
#1
Elisa Tassano, Sara Uccella, Thea Giacomini, Mariasavina Severino, Patrizia Fiorio, Giorgio Gimelli, Patrizia Ronchetto
Submicroscopic chromosomal alterations usually involve different protein-coding genes and regulatory elements that are responsible for rare contiguous gene disorders, which complicate the understanding of genotype-phenotype correlations. Chromosome band 3p26.3 contains 3 genes encoding neuronal cell adhesion molecules: CHL1, CNTN6, and CNTN4. We describe 2 boys aged 8 years and 11 years mainly affected by intellectual disability and autism spectrum disorder, who harbor a paternally inherited 3p26.3 microdeletion and a 3p26...
December 4, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30504708/accumulation-of-transposable-elements-in-autosomes-and-giant-sex-chromosomes-of-omophoita-chrysomelidae-alticinae
#2
Lucas A M Rosolen, Marcelo R Vicari, Mara C Almeida
Coleoptera is the most diverse order among insects, and comparative molecular cytogenetic studies in this group are lacking. The species of Omophoita (Oedionychina) possess a karyotype of 2n = 22 = 10II+X+Y. They are interesting models for evolutionary cytogenetic studies due to giant sex chromosomes which are asynaptic during meiosis. Transposable elements (TEs) confer plasticity and mobility to genomes and are considered hotspots for DNA double-strand breaks and chromosomal rearrangements. The objective of the present study was to verify the role of TEs in the karyotype and in the size expansion of the giant sex chromosomes in Omophoita...
December 1, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30504703/analysis-of-meiotic-segregation-pattern-and-interchromosomal-effects-in-a-bull-heterozygous-for-a-3-16-robertsonian-translocation
#3
Harmonie Barasc, Nathalie Mouney-Bonnet, Clémence Peigney, Anne Calgaro, Clémence Revel, Nicolas Mary, Alain Ducos, Alain Pinton
Robertsonian translocations are the most frequent chromosomal rearrangements detected in cattle. Here, we report on the detection of a new Robertsonian translocation between chromosomes BTA3 and BTA16. This rob(3;16) was dicentric, suggesting that its occurrence was recent. FISH analysis of decondensed sperm nuclei revealed a relatively low rate of unbalanced gametes produced by adjacent segregation (5.87%). In addition, and for the first time in bovines, a significant interchromosomal effect (ICE) was detected for 2 different autosomes: BTA17 (global disomy + nullisomy rate of 9%) and BTA20 (1...
December 1, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30497063/inter-cell-and-inter-chromosome-variability-of-5-hydroxymethylcytosine-patterns-in-noncultured-human-embryonic-and-extraembryonic-cells
#4
Olga A Efimova, Anna A Pendina, Mikhail I Krapivin, Vladimir V Kopat, Andrei V Tikhonov, Anastasiia V Petrovskaia-Kaminskaia, Polina M Navodnikova, Olga E Talantova, Oleg S Glotov, Vladislav S Baranov
5-hydroxymethylcytosine (5hmC) is an oxidative derivative of 5-methylcytosine (5mC). Recent studies have revealed a sharp difference in the levels of 5hmC in 2 opposite DNA strands of a given chromosome and a chromosome-wide cell-to-cell variability in mammalian cells. This asymmetric 5hmC distribution was found in cultured cells, which may not fully mimic in vivo epigenetic processes. We have checked whether inter-chromosome and inter-cell variability of 5hmC patterns is typical for noncultured human cells...
November 30, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30472715/the-karyotype-of-the-hoatzin-opisthocomus-hoazin-a-phylogenetic-enigma-of-the-neornithes
#5
Michelly S Dos Santos, Ivanete O Furo, Marcella M Tagliarini, Rafael Kretschmer, Patricia C M O'Brien, Malcolm A Ferguson-Smith, Edivaldo H C de Oliveira
The hoatzin (Opisthocomus hoazin Müller, 1776) is a folivorous bird, endemic to the Amazonian region. It presents some unique characteristics, including wing claws and foregut fermentation, which make its phylogenetic relationship to other birds difficult to determine. There have been various attempts to place it among the Galliformes, Gruiformes, Musophagiformes, Cuculiformes, and Charadriiformes, but phylogenetic analyses always show low supporting values. Nowadays, the hoatzin is included in the monotypic order Opisthocomiformes, but the relationship of this order to other groups of birds is still unclear...
November 24, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30466092/a-familial-small-supernumerary-marker-chromosome-15-associated-with-cryptic-mosaicism-with-two-different-additional-marker-chromosomes-derived-de-novo-from-chromosome-9-detailed-case-study-and-implications-for-recurrent-pregnancy-loss
#6
Vida Čulić, Ruzica Lasan-Trcić, Thomas Liehr, Igor N Lebedev, Maja Pivić, Jasminka Pavelic, Robert Vulić
We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases...
November 23, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30466086/localization-of-the-sry-gene-on-chromosome-3-in-a-patient-with-azoospermia-and-a-complex-karyotype-45-x-46-x-i-y-q10-46-xx-47-xx-i-y-q10
#7
Linda C Barnabas, Anbu Sumathy, Muthuswamy A Indumathi, Thankam R Varma, Swathi Shetty, Jayarama S Kadandale, Bibhas Kar
This study aimed to identify the cause of azoospermia in a 38-year-old infertile man who was referred for genetic testing. Cytogenetic evaluation was performed by G-banding, C-banding, and FISH using centromeric probes for chromosomes X and Y and showed the presence of a monocentric isochromosome Y with a complex, mosaic karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Multiplex PCR for the commonly deleted genes in the AZFa, AZFb, and AZFc regions of the Y chromosome was performed and indicated the presence of all 3 regions...
November 23, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30448833/new-insights-into-kleefstra-syndrome-report-of-two-novel-cases-with-previously-unreported-features-and-literature-review
#8
Claudia Ciaccio, Giulietta Scuvera, Arianna Tucci, Barbara Gentilin, Marco Baccarin, Paola Marchisio, Sabrina Avignone, Donatella Milani
Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the EHMT1 gene located in the same genomic region. To date, approximately 100 patients have been reported, thereby allowing the core phenotype of KS to be defined as developmental delay/intellectual disability, generalized hypotonia, neuropsychiatric anomalies, and a distinctive facial appearance. Here, to further expand the knowledge on genotype and phenotype of this condition, we report 2 novel cases: one patient carrying a 46-kb 9q34...
November 17, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30439704/multiple-congenital-anomalies-and-global-developmental-delay-in-a-patient-with-interstitial-6q25-2q26-deletion-a-diagnostic-odyssey
#9
Prabakaran Paulraj, Janice C Palumbos, Amanda Openshaw, John C Carey, Reha M Toydemir
Interstitial deletions involving 6q25 are rare chromosomal abnormalities associated with distinctive phenotypic features. We describe a 9-year-old boy who was followed from his infancy due to his multiple congenital anomalies and complex medical history. Over the years, a number of diagnoses were considered including Cornelia de Lange syndrome, Rubinstein-Taybi syndrome, as well as "a novel genetic disorder." Various genetic tests, including a BAC-based array-CGH analysis, were reported as normal...
November 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30439701/a-novel-and-cytogenetically-cryptic-t-7-21-q36-1-q22-disrupting-runx1-in-acute-myeloid-leukemia
#10
Adriana Zámečníkova, Soad Al Bahar
Translocations involving the RUNX1 transcription factor gene are frequently identified in leukemia patients, but the partner genes have been characterized in only about half of these cases. We report here a novel RUNX1 partner gene, KMT2C (MLL3), in a patient with de novo acute myeloid leukemia, having a novel and cytogenetically cryptic t(7;21)(q36.1;q22) leading to disruption of RUNX1 and KMT2C. This is the third cryptic RUNX1 rearrangement in myeloid and the fourth in hematologic malignancies.
November 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30376670/chromatin-diminution-in-cyclops-kolensis-lill-copepoda-crustacea-as-a-radical-way-to-inactivate-redundant-genome-in-somatic-cells
#11
Andrey K Grishanin, Maxim V Zagoskin
Chromatin diminution (CD) is a phenomenon of programmed DNA elimination which takes place in early embryogenesis in some eukaryotes. The mechanism and biological role of CD remain largely unknown. During CD in the freshwater copepod Cyclops kolensis, the genome of cells of the somatic lineage is reorganized and reduced in size by more than 90% without affecting the genome of germline cells. Although the diploid chromosome number is unchanged, chromosome size is dramatically reduced by CD. The eliminated DNA consists primarily of repetitive sequences and localizes within granules during the elimination process...
October 31, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30372695/superovulation-influences-methylation-reprogramming-and-delays-onset-of-dna-replication-in-both-pronuclei-of-mouse-zygotes
#12
Elif Diken, Matthias Linke, Jan Baumgart, Leonid Eshkind, Dennis Strand, Susanne Strand, Ulrich Zechner
Although an essential component of assisted reproductive technologies, ovarian stimulation, or superovulation, may interfere with the epigenetic reprogramming machinery during early embryogenesis and gametogenesis. To investigate the possible impact of superovulation particularly on the methylation reprogramming process directly after fertilization, we performed immunofluorescence staining of pronuclear (PN) stage embryos with antibodies against 5mC and 5hmC. PN stage embryos obtained by superovulation displayed an increased incidence of abnormal methylation and hydroxymethylation patterns in both maternal and paternal pronuclear DNA...
October 30, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30372694/first-report-of-low-rate-mosaicism-for-20q11-21q12-deletion-and-delineation-of-the-associated-disorder
#13
Sara Loddo, Viola Alesi, Silvia Genovese, Valeria Orlando, Chiara Calacci, Fabrizia Restaldi, Daniele Pompili, Maria T Liambo, Maria C Digilio, Bruno Dallapiccola, Maria L Dentici, Antonio Novelli
Interstitial deletions of the long arm of chromosome 20 are very rare, with only 12 reported patients harboring the 20q11.2 microdeletion and presenting a disorder characterized by psychomotor and growth delay, dysmorphisms, and brachy-/clinodactyly. We describe the first case of mosaic 20q11.2 deletion in a 5-year-old girl affected by mild psychomotor delay, feeding difficulties, growth retardation, craniofacial dysmorphisms, and finger anomalies. SNP array analysis disclosed 20% of cells with a 20q11.21q12 deletion, encompassing the 20q11...
October 30, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30326464/michael-schmid-1948-2018-a-life-devoted-to-science
#14
Holger Höhn
No abstract text is available yet for this article.
October 17, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30308502/characterization-of-new-wheat-dasypyrum-breviaristatum-introgression-lines-with-superior-gene-s-for-spike-length-and-stripe-rust-resistance
#15
Hongjin Wang, Zhihui Yu, Bin Li, Tao Lang, Guangrong Li, Zujun Yang
Dasypyrum breviaristatum (genome VbVb) contains potentially important traits for commercial wheat production. Chromosome 2Vb of D. breviaristatum carries several desirable agronomic characters, including long spike length as well as enhanced resistance to stripe rust, which are expressed in a common wheat background. In this study, wheat-D. breviaristatum 2Vb deletion lines were produced and identified by fluorescence in situ hybridization (FISH), and 74 molecular markers specific to D. breviaristatum chromosome 2Vb were physically localized in 4 distinct chromosomal regions...
October 12, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30296783/meiotic-recombination-differences-in-rams-from-three-breeds-of-sheep-in-the-us
#16
Kimberly M Davenport, Stephanie McKay, Alan G Fahey, Clare Gill, Brenda M Murdoch
Meiotic recombination is an important contributor to genetic variation and ensures proper chromosome segregation during gametogenesis. Previous studies suggest that at least 1 crossover (CO) per chromosome arm is important to avoid mis-segregation. While the total number of COs per spermatocyte is known to differ in mice, this is only beginning to be evaluated in sheep. This study used a cytogenetic approach to quantify and compare the number of COs per spermatocyte in rams from 3 breeds of sheep: Suffolk, Icelandic, and Targhee...
October 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30296781/a-rare-case-of-concomitant-deletions-in-15q11-2-and-19p13-3
#17
Ilária C Sgardioli, Elaine Lustosa-Mendes, Ana P Dos Santos, Társis P Vieira, Vera L Gil-da-Silva-Lopes
A female individual with concomitant deletions in 15q11.2 and 19p13.3 is reported. She presents facial dysmorphisms, motor delay, learning difficulties, and mild behavioral impairment. After chromosomal microarray analysis, the final karyotype was established as 46,XX.arr[GRCh37] 15q11.2 (22770421_23282798)×1,19p13.3(3793904_4816330)×1. The deletion in 15q11.2 is 507 kb in size involving 7 non-imprinted genes, 4 of which are registered in the OMIM database and are implicated in neuropsychiatric or neurodevelopmental disorders...
October 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30286453/a-challenging-prenatal-qf-pcr-rapid-aneuploidy-test-result-caused-by-a-maternally-inherited-triplication-within-chromosome-xq26-2
#18
Amy Inkster, Mary Ann Thomas, Nadine S Gamache, Michael Chan, Pernilla Stenroos, Judy E Chernos, Bob Argiropoulos
The aim of this study was to investigate the origin of the biallelic trisomic amplification pattern of the X chromosome microsatellite marker DXS1187 in an otherwise normal male fetus, identified on routine rapid aneuploidy detection (RAD) testing by quantitative fluorescent-polymerase chain reaction (QF-PCR). Amniocentesis was performed on a 35-year-old female at 15 weeks, 2 days gestation for a positive first trimester screen. QF-PCR, metaphase FISH, and chromosomal microarray were carried out on both maternal and fetal DNA...
October 5, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30286452/partial-5p-deletion-and-partial-5q-duplication-in-a-patient-with-multiple-congenital-anomalies-a-two-step-mechanism-in-chromosomal-rearrangement-mediated-by-non-allelic-homologous-recombination
#19
Zhishuo Z Ou, Sally Kochmar, Svetlana A Yatsenko, Audrey C Woerner, Roxanne Acquaro, Damara Ortiz, Urvashi Surti, Jie Hu
We describe a 5-month-old female who presented with clinical features of 5p deletion syndrome, including high-pitched cry, microcephaly, micrognathia, bilateral preauricular tags, bifid uvula, abnormal palmar creases, bilateral hypoplastic nipples, feeding difficulties, and developmental delay. In addition, the patient also had a cardiac defect, proximal esophageal atresia, and distal tracheoesophageal fistula. aCGH of the patient revealed a 22.9-Mb deletion of chromosome 5p15.33p14.3 and an 8.28-Mb duplication of chromosome 5q12...
October 5, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/30273929/unbalanced-14-x-translocation-and-pattern-of-x-inactivation-in-a-female-patient-with-multiple-congenital-anomalies
#20
Amal Mahmoud Mohamed, Maha S Zaki, Alaa K Kamel, Mahmoud Y Issa, Mona Mekkawy, Peter Safwat, Inas Mazen
We report on a female patient who was first evaluated at the age of 6 years with developmental delay, dysmorphic facial features, seizures, and autistic behavior. A brain CT showed complete agenesis of the corpus callosum, and EEG recorded bilateral epileptogenic foci. Karyotype analysis revealed 45,X,psu dic(14;X)(p11;p22). FISH using 14q and Xp subtelomeric probes, combined with a SHOX gene-specific probe, and centromere X and XIST gene analysis revealed ish psu dic(14;X)(D14S1420+; DXYS129-, SHOX-, DXZ1+, XIST+)...
September 29, 2018: Cytogenetic and Genome Research
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