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Molecular Cytogenetics

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https://www.readbyqxmd.com/read/28184250/meiotic-outcome-in-two-carriers-of-y-autosome-reciprocal-translocations-selective-elimination-of-certain-segregants
#1
Harita Ghevaria, Roy Naja, Sioban SenGupta, Paul Serhal, Joy Delhanty
BACKGROUND: Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic diagnosis (PGD) enabling determination of the segregation types that were compatible with fertilization and preimplantation embryo development. Both PGD and follow up analysis were carried out via fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH) allowing the meiotic segregation types to be determined in a total of 27 embryos...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28174603/mlpa-analysis-in-a-cohort-of-patients-with-autism
#2
Sara Peixoto, Joana B Melo, José Ferrão, Luís M Pires, Nuno Lavoura, Marta Pinto, Guiomar Oliveira, Isabel M Carreira
BACKGROUND: Autism is a global neurodevelopmental disorder which generally manifests during the first 2 years and continues throughout life, with a range of symptomatic variations. Epidemiological studies show an important role of genetic factors in autism and several susceptible regions and genes have been identified. The aim of our study was to validate a cost-effective set of commercial Multiplex Ligation dependent Probe Amplification (MLPA) and methylation specific multiplex ligation dependent probe amplification (MS-MLPA) test in autistic children refered by the neurodevelopmental center and autism unit of a Paediatric Hospital...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28031746/a-high-complex-karyotype-involving-eleven-chromosomes-including-three-novel-chromosomal-aberrations-and-monoallelic-loss-of-tp53-in-case-of-follicular-lymphoma-transformed-into-b-cell-lymphoblastic-leukemia
#3
Abdulsamad Wafa, Faten Moassass, Thomas Liehr, Samarth Bhatt, Abdulmunim Aljapawe, Walid Al Achkar
BACKGROUND: Follicular lymphoma (FL) is one of the most common B-cell non-Hodgkin's lymphoma (NHL). A subset of FL cases transform into more aggressive malignancies, most often to diffuse large B-cell lymphoma (DLBCL); in addition, lymphoblastic lymphoma and acute lymphoblastic leukemia (ALL) have also been rarely reported. The most common cytogenetic abnormalities associated with FL are translocation t(14;18)(q32;q21) with BCL2 rearrangements, present in 80-90% of all FL. However, that translocation alone is insufficient to cause FL and additional genomic events specifically leading to this kind of disease are still to be determined...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28018487/inherent-variability-of-cancer-specific-aneuploidy%C3%A2-generates-metastases
#4
Mathew Bloomfield, Peter Duesberg
BACKGROUND: The genetic basis of metastasis is still unclear because metastases carry individual karyotypes and phenotypes, rather than consistent mutations, and are rare compared to conventional mutation. There is however correlative evidence that metastasis depends on cancer-specific aneuploidy, and that metastases are karyotypically related to parental cancers. Accordingly we propose that metastasis is a speciation event. This theory holds that cancer-specific aneuploidy varies the clonal karyotypes of cancers automatically by unbalancing thousands of genes, and that rare variants form new autonomous subspecies with metastatic or other non-parental phenotypes like drug-resistance - similar to conventional subspeciation...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27980677/a-18p11-23-p11-31-microduplication-in-a-boy-with-psychomotor-delay-cerebellar-vermis-hypoplasia-chorioretinal-coloboma-deafness-and-gh-deficiency
#5
Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza, Mauro Bozzola
BACKGROUND: Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy. CASE PRESENTATION: In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar vermis, chorioretinal coloboma, deafness and growth hormone deficiency (GHD), an interstitial microduplication at 18p11.31-p11.23 was identified by array-CGH. This maternally inherited microduplication, encompasses three genes, namely ARHGAP28, LINC00668 and LAMA1 (a gene involved in cerebellum and retinal development)...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27980676/autism-and-intellectual-disability-in-a-patient-with-two-microdeletions-in-6q16-a-contiguous-gene-deletion-syndrome
#6
Daniela Strunk, Peter Weber, Benno Röthlisberger, Isabel Filges
BACKGROUND: Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism. CASE PRESENTATION: We describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) analysis showed the unusual finding of two de novo microdeletions in cis position on chromosome 6q16.1q16.2 and 6q16.3. The two deletions span 10 genes, including FBXL4, POU3F2, PRDM13, CCNC, COQ3 and GRIK2...
2016: Molecular Cytogenetics
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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