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Molecular Cytogenetics

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https://www.readbyqxmd.com/read/27924152/molecular-characterization-of-a-rare-analphoid-supernumerary-marker-chromosome-derived-from-7q35%C3%A2-%C3%A2-%C3%A2-qter-a-case-report
#1
Bárbara Marques, Cristina Ferreira, Filomena Brito, Sónia Pedro, Cristina Alves, Teresa Lourenço, Marta Amorim, Hildeberto Correia
BACKGROUND: Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far. CASE PRESENTATION: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27924151/effect-of-sp600125-on-the-mitotic-spindle-in-hela-cells-leading-to-mitotic-arrest-endoreduplication-and-apoptosis
#2
Donia Mili, Kaouthar Abid, Imed Rjiba, Abderraouf Kenani
BACKGROUND: The JNK inhibitor SP600125 strongly inhibits cell proliferation in many human cancer cells by blocking mitosis progression and inducing cell death. Despite, all this study, the mechanism by which SP600125 inhibits mitosis-related effects in human cervical cells (HeLa cells) remains unclear. In this study, we investigated the effects of SP600125 on the cell viability, cell cycle, and on the spindle assembly during mitosis in HeLa cells. METHODS: To explore this approach, we used a viability test, an immunofluorescence microscopy to detect Histone phosphorylation and mitotic spindle aberrations...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895714/early-detection-and-personalized-treatment-in-oral-cancer-the-impact-of-omics-approaches
#3
REVIEW
Ilda Patrícia Ribeiro, Leonor Barroso, Francisco Marques, Joana Barbosa Melo, Isabel Marques Carreira
BACKGROUND: Oral cancer is one of the most common malignant lesions of the head and neck. This cancer is an aggressive and lethal disease with no significant improvements in the overall survival in the last decades. Moreover, the incidence of oral HPV-positive tumors is rising, especially in young people. This oral neoplasm develops through numerous molecular imbalances that affect key genes and signaling pathways; however, the molecular mechanisms involved in the pathogenesis and progression of oral tumors are still to be fully determined...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895713/coexistence-of-iamp21-and-etv6-runx1-fusion-in-an-adolescent-with-b-cell-acute-lymphoblastic-leukemia-literature-review-of-six-additional-cases
#4
Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P Patel, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases associated with a poor prognosis. iAMP21 accounts for 2% of pediatric B-ALL and occurs predominantly in older children or adolescents. ETV6-RUNX1 fusion, resulting from t(12;21)(p13;q22), is associated with an excellent outcome in younger children with B-ALL. Coexistence of iAMP21 with ETV6-RUNX1 fusion is extremely rare with limited clinical information available...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895712/philadelphia-chromosome-duplication-as-a-ring-shaped-chromosome
#5
Cesar Borjas-Gutierrez, Juan Ramon Gonzalez-Garcia
The gain of a second copy of the Philadelphia chromosome is one of the main secondary chromosomal changes related to the clonal evolution of cells with t(9;22) in chronic myelogenous leukemia. This gain causes the acquisition of another copy of the BCR/ABL1 fusion gene. Isochromosomes of the der(22) chromosome or double minute chromosomes are well known to lead an increased copy number of BCR/ABL1 gene. There is no antecedent of Philadelphia chromosome duplication as a ring chromosome. A recent published report contains evidence that strongly suggests that the Philadelphia chromosome was duplicated as a ring chromosome, observation that was overlooked by the authors...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27895711/erratum-to-subtelomeric-multiplex-ligation-dependent-probe-amplification-as-a-supplement-for-rapid-prenatal-detection-of-fetal-chromosomal-aberrations
#6
Xiangnan Chen, Huanzheng Li, Yijian Mao, Xueqin Xu, Jiaojiao Lv, Lili Zhou, Xiaoling Lin, Shaohua Tang
[This corrects the article DOI: 10.1186/s13039-014-0096-1.].
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27891178/enrichment-of-small-pathogenic-deletions-at-chromosome-9p24-3-and-9q34-3-involving-dock8-kank1-ehmt1-genes-identified-by-using-high-resolution-oligonucleotide-single-nucleotide-polymorphism-array-analysis
#7
Jia-Chi Wang, Loretta W Mahon, Leslie P Ross, Arturo Anguiano, Renius Owen, Fatih Z Boyar
BACKGROUND: High-resolution oligo-SNP array allowed the identification of extremely small pathogenic deletions at numerous clinically relevant regions. In our clinical practice, we found that small pathogenic deletions were frequently encountered at chromosome 9p and 9q terminal regions. RESULTS: A review of 531 cases with reportable copy number changes on chromosome 9 revealed142 pathogenic copy number variants (CNVs): 104 losses, 31 gains, 7 complex chromosomal rearrangements...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27822311/mir137-is-the-key-gene-mediator-of-the-syndromic-obesity-phenotype-of-patients-with-1p21-3-microdeletions
#8
Arianna Tucci, Claudia Ciaccio, Giulietta Scuvera, Susanna Esposito, Donatella Milani
BACKGROUND: Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap comprises two genes: DPYD and MIR137. CASE PRESENTATION: We describe a 10-year-old boy with syndromic obesity who carries a novel 1p21.3 deletion overlapping the critical region with the MIR137 gene only. CONCLUSIONS: This study suggests that MIR137 is the mediator of the obesity phenotype of patients carrying 1p21...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27766118/interstitial-de-novo-18q22-3q23-deletion-clinical-neuroradiological-and-molecular-characterization-of-a-new-case-and-review-of-the-literature
#9
Elisa Tassano, Mariasavina Severino, Silvia Rosina, Riccardo Papa, Domenico Tortora, Giorgio Gimelli, Cristina Cuoco, Paolo Picco
BACKGROUND: Deletions of the long arm of chromosome 18 cause a common autosomal syndrome clinically characterized by a protean clinical phenotype. CASE PRESENTATION: We report on a 16-month-old male infant affected by fever attacks apparently unrelated with any infectious or inflammatory symptoms, growth retardation, bilateral vertical talus, congenital aural atresia, dysmorphisms, mild psychomotor delay, and peculiar neuroradiological features. Array-CGH analysis revealed one of the smallest 18q22...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27752285/molecular-cytogenetic-analysis-of-early-spontaneous-abortions-conceived-from-varying-assisted-reproductive-technology-procedures
#10
Tonghua Wu, Biao Yin, Yuanchang Zhu, Guangui Li, Lijun Ye, Chunmei Chen, Yong Zeng, Desheng Liang
BACKGROUND: Spontaneous abortion (SA) is the most common complication of pregnancy, and chromosome aberrations are the principal cause of the first trimester abortuses in natural conception (NC) The increasing use of assisted reproductive technology (ART) has raised concern about chromosome abnormalities in ART-initiated pregnancies. Up to date, the literature on the risk of aneuploidy in failed pregnancies among various ART factors remain limited and inconclusive. This study aimed to explore the genetic etiology of pregnancy loss conceived from varying ART procedures...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27713767/prenatal-diagnosis-of-1p34-3-interstitial-microdeletion-by-acgh-in-a-fetus-with-jaw-bone-abnormalities
#11
Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Vassilis Paspaliaris, Christina Zerva, Panagiotis Chatzis, Loretta Thomaidis, Emmanouil Manolakos, Ioannis Papoulidis
BACKGROUND: Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay. CASE PRESENTATION: The present case involved a female fetus with an interstitial deletion on 1p, presenting with micrognathia in the 2nd trimester routine ultrasound examination...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27708716/erratum-to-delineation-variable-genotype-phenotype-correlations-of-6q27-terminal-deletion-derived-from-dic-6-18-q27-p10
#12
Lili Zhou, Chong Chen, Huanzheng Li, Yunying Chen, Xueqin Xu, Xiaoling Lin, Shaohua Tang
[This corrects the article DOI: 10.1186/s13039-014-0078-3.].
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27708715/12p-deletion-spectrum-syndrome-a-new-case-report-reinforces-the-evidence-regarding-the-potential-relationship-to-autism-spectrum-disorder-and-related-developmental-impairments
#13
Marcio Leyser, Bruno Leonardo Dias, Ana Luiza Coelho, Marcio Vasconcelos, Osvaldo J M Nascimento
BACKGROUND: Autism Spectrum Disorders (ASD) now encompass a broad heterogeneous group of people who present in the early developmental years with a wide range of social and communication deficits, which are typically also associated with complex repetitive behaviors and circumscribed interests. The target goal is to heighten readers' perception into the trend to personalize the distinct autistic and related developmental conditions encompassing the 12p region. CASE PRESENTATION: This is a case-report of a 4-year-old male who presented the core signs of ASD, which were thought to be related to a rare 12p13...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27708714/the-presence-of-two-rare-genomic-syndromes-1q21-deletion-and-xq28-duplication-segregating-independently-in-a-family-with-intellectual-disability
#14
Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim
BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and other neurological complications including late-onset seizures...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27708713/new-insights-of-karyoevolution-in-the-amazonian-turtles-podocnemis-expansa-and-podocnemis-unifilis-testudines-podocnemidae
#15
R C R Noronha, L M R Barros, R E F Araújo, D F Marques, C Y Nagamachi, C Martins, J C Pieczarka
BACKGROUND: Cytogenetic studies were conducted in the Brazilian Amazon turtles, Podocnemis expansa Schweigger, 1912 (PEX) and Podocnemis unifilis Troschel, 1848 (PUN) to understand their karyoevolution. Their chromosomal complements were compared using banding techniques (C, G-, Ag-NOR and Chromomycin A3) and fluorescence in situ hybridization (FISH), and efforts were made to establish evolutionary chromosomal relationships within the Podocnemidae family. RESULTS: Our results revealed that both species have a chromosome complement of 2n = 28...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27708712/one-pedigree-we-all-may-have-come-from-did-adam-and-eve-have-the-chromosome-2-fusion
#16
Paweł Stankiewicz
BACKGROUND: In contrast to Great Apes, who have 48 chromosomes, modern humans and likely Neandertals and Denisovans have and had, respectively, 46 chromosomes. The reduction in chromosome number was caused by the head-to-head fusion of two ancestral chromosomes to form human chromosome 2 (HSA2) and may have contributed to the reproductive barrier with Great Apes. RESULTS: Next generation sequencing and molecular clock analyses estimated that this fusion arose prior to our last common ancestor with Neandertal and Denisovan hominins ~ 0...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27688808/19p13-2-microdeletion-including-nfix-associated-with-overgrowth-and-intellectual-disability-suggestive-of-malan-syndrome
#17
Hai-Yun Dong, Hui Zeng, Yi-Qiao Hu, Li Xie, Jian Wang, Xiu-Ying Wang, Yi-Feng Yang, Zhi-Ping Tan
BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. We identified two rare copy number variations harboring overgrowth syndrome related genes...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27625703/first-molecular-cytogenetic-characterization-of-fanconi-anemia-fragile-sites-in-primary-lymphocytes-of-fa-d2-patients-in-different-stages-of-the-disease
#18
Jelena Filipović, Gordana Joksić, Dragana Vujić, Ivana Joksić, Kristin Mrasek, Anja Weise, Thomas Liehr
BACKGROUND: Fanconi anemia (FA) is a chromosomal instability syndrome characterized by increased frequency of chromosomal breakages, chromosomal radial figures and accelerated telomere shortening. In this work we performed detailed molecular-cytogenetic characterization of breakpoints in primary lymphocytes of FA-D2 patients in different stages of the disease using fluorescent in situ hybridization. RESULTS: We found that chromosomal breakpoints co-localize on the molecular level with common fragile sites, whereas their distribution pattern depends on the severity of the disease...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27625702/dissection-of-partial-21q-monosomy-in-different-phenotypes-clinical-and-molecular-characterization-of-five-cases-and-review-of-the-literature
#19
Edoardo Errichiello, Francesca Novara, Anna Cremante, Annapia Verri, Jessica Galli, Elisa Fazzi, Daniela Bellotti, Laura Losa, Mariangela Cisternino, Orsetta Zuffardi
BACKGROUND: Partial deletion of chromosome 21q is a very rare chromosomal abnormality associated with highly variable phenotypes, such as facial dysmorphic features, heart defects, seizures, psychomotor delay, and severe to mild intellectual disability, depending on the location and size of deletions. So far, three broad deletion regions of 21q have been correlated with the clinical phenotype. RESULTS: We described the clinical and genetic features of three family members (father and two siblings) and other two unrelated patients with very wide range in age of diagnosis...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27610202/enlarged-nt-%C3%A2-3-5%C3%A2-mm-in-the-first-trimester-not-all-chromosome-aberrations-can-be-detected-by-nipt
#20
Malgorzata I Srebniak, Merel C de Wit, Karin E M Diderich, Lutgarde C P Govaerts, Marieke Joosten, Maarten F C M Knapen, Marnix J Bos, Gerda A G Looye-Bruinsma, Mieke Koningen, Attie T J I Go, Robert Jan H Galjaard, Diane Van Opstal
BACKGROUND: Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well. METHOD: 362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array...
2016: Molecular Cytogenetics
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