keyword
MENU ▼
Read by QxMD icon Read
search

cgh

keyword
https://www.readbyqxmd.com/read/28633287/genetic-diseases-and-aneuploidies-can-be-detected-with-a-single-blastocyst-biopsy-a-successful-clinical-approach
#1
Maria Giulia Minasi, Francesco Fiorentino, Alessandra Ruberti, Anil Biricik, Elisabetta Cursio, Ettore Cotroneo, Maria Teresa Varricchio, Matteo Surdo, Francesca Spinella, Ermanno Greco
STUDY QUESTION: Can simultaneous detection of aneuploidies and genetic diseases or chromosomal aberrations in blastocysts reduce the chance of transferring embryos with low implantation potential, guaranteeing good clinical outcomes? SUMMARY ANSWER: The screening for chromosomal aneuploidies revealed that 50.6% of blastocysts diagnosed free of genetic disease or balanced, were aneuploid, therefore avoiding the transfer of blastocysts potentially resulting in implantation failures, miscarriages, or in some cases, in health affected live births...
June 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28633043/de-novo-12q22-q23-3-duplication-associated-with-temporal-lobe-epilepsy
#2
Maria Stella Vari, Monica Traverso, Tommaso Bellini, Francesca Madia, Francesca Pinto, Carlo Minetti, Pasquale Striano, Federico Zara
PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients...
June 15, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28630856/chimeric-genes-in-deletions-and-duplications-associated-with-intellectual-disability
#3
Sonia Mayo, Sandra Monfort, Mónica Roselló, Carmen Orellana, Silvestre Oltra, Alfonso Caro-Llopis, Francisco Martínez
We report on three nonrelated patients with intellectual disability and CNVs that give rise to three new chimeric genes. All the genes forming these fusion transcripts may have an important role in central nervous system development and/or in gene expression regulation, and therefore not only their deletion or duplication but also the resulting chimeric gene may contribute to the phenotype of the patients. Deletions and duplications are usually pathogenic when affecting dose-sensitive genes. Alternatively, a chimeric gene may also be pathogenic by different gain-of-function mechanisms that are not restricted to dose-sensitive genes: the emergence of a new polypeptide that combines functional domains from two different genes, the deregulated expression of any coding sequence by the promoter region of a neighboring gene, and/or a putative dominant-negative effect due to the preservation of functional domains of partially truncated proteins...
2017: International Journal of Genomics
https://www.readbyqxmd.com/read/28625614/characterization-of-an-acquired-jumping-translocation-involving-3q13-31-qter-in-a-patient-with-de-novo-acute-monocytic-leukemia
#4
Eigil Kjeldsen
We studied an adult with de novo acute monocytic leukemia and a dismal outcome where her leukemic cells harbored an acquired rare jumping translocation (JT). We used oligo-based array CGH (oaCGH) analysis, fluorescence in situ hybridization (FISH), and 24-color karyotyping to enhance the characterization of the JT. G-banding detected a JT involving the 3q13.3-qter chromosomal segment and the recipient chromosomal regions 17p, 8q, and 15q. Each clone with JT was associated with trisomy 8. oaCGH analysis revealed an additional submicroscopic deletion in 3q13...
June 15, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28620890/identification-and-characterization-of-a-new-brca2-rearrangement-in-an-italian-family-with-hereditary-breast-and-ovarian-cancer-syndrome
#5
Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Maria De Bonis, Alessandra Costella, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
INTRODUCTION: Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various populations, while LGRs in BRCA2 are rarer. Here, we describe a novel BRCA2 LGR, involving the duplication of exons 4-26, in an Italian family with hereditary breast and ovarian cancer (HBOC) syndrome. OBJECTIVE: Our purpose was to provide an effective characterization of this variant using a combination of different methods able to establish the exact breakpoints of the duplication...
June 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28611550/familial-5q12-3-microdeletion-evidence-for-a-locus-associated-with-epilepsy
#6
Chiara Gnan, Alessandra Franzoni, Federica Baldan, Nadia Passon, Giuseppe Damante, Patrizia Dello Russo
The clinical use of array comparative genomic hybridization (array CGH) has allowed the identification of very rare deletion and duplication disorders, such as 5q12 deletion syndrome (OMIM 615668) described as a contiguous gene deletion syndrome of chromosome 5q12. Chromosome microdeletions including band 5q12 have rarely been reported and have been associated with different phenotypes showing postnatal growth restriction, intellectual disability, epileptic seizures, hyperactivity, and ocular abnormalities...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28605748/characterization-of-the-phenotype-associated-with-microduplication-reciprocal-to-nf1-microdeletion-syndrome
#7
Elisa Tassano, Thea Giacomini, Mariasavina Severino, Alessandra Gamucci, Patrizia Fiorio, Giorgio Gimelli, Patrizia Ronchetto
17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11...
June 13, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28604823/the-chromosome-analysis-of-the-miscarriage-tissue-miscarried-embryo-fetal-crown-rump-length-crl-measurement-a-practical-use
#8
Silvia D'ippolito, Nicoletta Di Simone, Daniela Orteschi, Maria Grazia Pomponi, Maurizio Genuardi, Leuconoe Grazia Sisti, Roberta Castellani, Esther Diana Rossi, Giovanni Scambia, Marcella Zollino
OBJECTIVE: To investigate whether miscarried embryo/fetal crown rump length (CRL) measurement may yield a practical application for predicting a conclusive result at the cytogenetic analysis of miscarriage tissue. Our study might help in improving the cytogenetic method, the results of which may be affected by maternal cell contamination (MCC). In particular, we aimed at establishing whether the miscarried embryo/fetal CRL measurement shows accuracy in predicting the possibility of MCC and the scan cut-off value useful to this purpose and, as a result, suggest a multi-step procedure for the genetic ascertainment...
2017: PloS One
https://www.readbyqxmd.com/read/28588822/de-novo-balanced-reciprocal-translocation-t-2-3-q31-q27-in-a-fetus-conceived-using-pgd-in-a-t-2-14-q35-q32-1-balanced-reciprocal-translocation-carrier-mother
#9
Ji Won Kim, Sung Han Shim, Woo Sik Lee
We reported a case of a t(2;14) balanced reciprocal translocation carrier mother that conceived by IVF accompanied by PGD/PGS using array-CGH; however, de novo t(2;3) was detected in the prenatal diagnosis. A healthy baby was delivered, and careful observation is needed for PGD/PGS cases.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28588434/maternal-uniparental-disomy-14-temple-syndrome-as-a-result-of-a-robertsonian-translocation
#10
Veronica Bertini, Antonella Fogli, Rossella Bruno, Alessia Azzarà, Angela Michelucci, Teresa Mattina, Silvano Bertelloni, Angelo Valetto
Maternal uniparental disomy of chromosome 14 (upd(14)mat) or Temple syndrome is an imprinting disorder associated with a relatively mild phenotype. The absence of specific congenital malformations makes this condition underdiagnosed in clinical practice. A boy with a de novo robertsonian translocation 45,XY,rob(13;14)(q10;q10) is reported; a CGH/SNP array showed a loss of heterozygosity in 14q11.2q13.1. The final diagnosis of upd(14)mat was made by microsatellite analysis, which showed a combination of heterodisomy and isodisomy for different regions of chromosome 14...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28586151/a-heterozygous-microdeletion-of-20p12-2-3-encompassing-prokr2-and-bmp2-in-a-patient-with-congenital-hypopituitarism-and-growth-hormone-deficiency
#11
Samuel J H Parsons, Neville B Wright, Emma Burkitt-Wright, Mars S Skae, Phillip G Murray
Congenital growth hormone deficiency is a rare disorder with an incidence of approximately 1 in 4,000 live births. Pituitary development is under the control of a multitude of spatiotemporally regulated signaling molecules and transcription factors. Mutations in the genes encoding these molecules can result in hypopituitarism but for the majority of children with congenital hypopituitarism, the aetiology of their disease remains unknown. The proband is a 5-year-old girl who presented with neonatal hypoglycaemia and prolonged jaundice...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28585870/accuracy-of-diagnosis-and-counseling-of-fetal-brain-anomalies-prior-to-24%C3%A2-weeks-of-gestational-age
#12
Rozemarijn Snoek, Marieke E W A Albers, Eduard J H Mulder, Klaske D Lichtenbelt, Linda S de Vries, Peter G J Nikkels, Inge Cuppen, Lourens R Pistorius, Gwendolyn T R Manten, Roel de Heus
OBJECTIVE: To evaluate the accuracy of prenatal neurosonography in diagnosing underlying causes of fetal ventriculomegaly, posterior fossa anomalies and microcephaly before 24 weeks' gestational age (GA) and to study the accuracy of prenatal counseling on postnatal prognosis. METHODS: A retrospective cohort study based on 146 cases of these fetal brain anomalies before 24 weeks' GA. Counseling on prognosis was compared with postnatal outcome. Data on genetic testing was analyzed...
June 6, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28584259/complex-beam-shaping-based-on-an-equivalent-q-plate-system-and-analysis-of-its-properties-using-digital-holography-polarization-imaging
#13
Ching-Han Yang, Andy Ying-Guey Fuh
In this study, we generate various complex beams carrying angular momentum (AM) by using a programmable beam shaping system to mimic typical q-plates. When a circularly polarized wave is incident onto the system, the emerging beam reverses its spin handedness and obtains a spatial phase factor. This phase factor can be engineered by designing a computer-generated hologram (CGH) and applying it to a spatial light modulator (SLM) to produce a beam with controllable spatially distributed orbital angular momentum (OAM) density...
June 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28576425/-correlation-of-genetic-and-cytogenetic-alterations-in-pathological-aggressiveness-urothelial-carcinoma-of-the-bladder-performance-of-bca-1-a-mini-array-comparative-genomic-hybridisation-based-test
#14
P Léon, G Cancel Tassin, K Sighar, E Compérat, C Gaffory, V Ondet, S Hugonin, M Audouin, S Doizi, O Traxer, C Ciofu, M Rouprêt, R Lacave, O Cussenot
INTRODUCTION: Urothelial carcinomas are the fourth leading cause of cancer in humans. Their incidence is increasing by more than 50% in 25 years. The superficial forms (70% cases) require a close active surveillance to identify frequent recurrences and progression to invasive stage. Our main goal was to identify prognostic molecular markers for bladder cancer that could be used alone or in combination in routine clinical practice. In this aim, we evaluated the capability of the BCA-oligo test based on a CGH array to correctly classify tumoral grade/stage...
June 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28574232/a-heritable-microduplication-encompassing-tbl1xr1-causes-a-genomic-sister-disorder-for-the-3q26-32-microdeletion-syndrome
#15
Vera Riehmer, Florian Erger, Peter Herkenrath, Saskia Seland, Miriam Jackels, Alfred Wiater, Raoul Heller, Bodo B Beck, Christian Netzer
Recently, a new syndrome with intellectual disability (ID) and dysmorphic features due to deletions or point mutations within the TBL1XR1 gene located in the chromosomal band 3q26.32 has been described (MRD41, OMIM 616944). One recurrent point mutation in the TBL1XR1 gene has been identified as the cause of Pierpont syndrome (OMIM 602342), a distinct intellectual disability syndrome with plantar lipomatosis. In addition, different de novo point mutations in the TBL1XR1 gene have been found in patients with autism spectrum disorders (ASD) and intellectual disability...
June 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28573975/benign-infantile-seizures-followed-by-autistic-regression-in-a-boy-with-16p11-2-deletion
#16
Roberta Milone, Angelo Valetto, Veronica Bertini, Federico Sicca
Benign infantile seizures (BIS) are usually a self-limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11...
June 2, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28569045/a-novel-ews-creb3l3-gene-fusion-in-a-mesenteric-sclerosing-epithelioid-fibrosarcoma
#17
Barbara Dewaele, Louis Libbrecht, Gabriel Levy, Benedicte Brichard, Vanessa Vanspauwen, Raf Sciot, Maria Debiec-Rychter
Sclerosing epithelioid fibrosarcoma (SEF) is a rare, malignant fibroblastic neoplasm, morphologically composed of cords, nests or sheets of monotonous epithelioid cells within a collagenous matrix. It has been recently characterized by recurrent pathogenic EWS-CREB3L1/2 or FUS-CREB3L2 fusions and common MUC4 protein expression by immunohistochemistry. Typically SEF occur in middle-aged adults and rarely have been reported within the abdominal cavity. Here we report an 18-year-old man with intraabdominal tumour and multiple disseminated liver metastases, presenting pure SEF histologic and immunophenotypic features...
May 31, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28556904/diagnostic-application-of-a-capture-based-ngs-test-for-the-concurrent-detection-of-variants-in-sequence-and-copy-number-as-well-as-loh
#18
Annalisa Vetro, Didier Godin, Ivan Lesende, Ivan Limongelli, Guglielmina Nadia Ranzani, Francesca Novara, Maria Clara Bonaglia, Berardo Rinaldi, Fabrizia Franchi, Emmanouil Manolakos, Fortunato Lonardo, Francesca Scarano, Gioacchino Scarano, Lucy Costantino, Silvana Tedeschi, Sabrina Giglio, Orsetta Zuffardi
Whole exome sequencing has made increasingly accessible the identification of causative SNVs/InDels associated with rare Mendelian conditions. Incorporation of softwares allowing CNVs detection into the WES bioinformatics pipelines may increase the diagnostic yield. However, no standard protocols for this analysis are so far available and CNVs in non-coding regions are totally missed by WES, in spite of their possible role in the regulation of the flanking genes expression. So, in a number of cases the diagnostic workflow contemplates an initial investigation by genomic arrays followed, in the negative cases, by whole exome sequencing...
May 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28555358/complex-chromosomal-rearrangement-a-lesson-learned-from-pgs
#19
Tsvia Frumkin, Sagit Peleg, Veronica Gold, Adi Reches, Shiri Asaf, Foad Azem, Dalit Ben-Yosef, Mira Malcov
PURPOSE: The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which resulted in a pregnancy and delivery of healthy offspring. METHODS: A 29-year-old woman and her spouse, both diagnosed previously with normal karyotypes, approached our IVF-PGD center following eight early spontaneous miscarriages. PGS using chromosomal microarray analysis (CMA) was performed on biopsied trophectoderm...
May 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28550183/somatic-mutation-spectrum-in-monoclonal-gammopathy-of-undetermined-significance-indicates-a-less-complex-genomic-landscape-compared-to-multiple-myeloma
#20
Aneta Mikulasova, Christopher P Wardell, Alexander Murison, Eileen M Boyle, Graham H Jackson, Jan Smetana, Zuzana Kufova, Ludek Pour, Viera Sandecka, Martina Almasi, Pavla Vsianska, Evzen Gregora, Petr Kuglik, Roman Hajek, Faith E Davies, Gareth J Morgan, Brian A Walker
Monoclonal gammopathy of undetermined significance (MGUS) is a premalignant precursor of multiple myeloma with a 1% risk of progression per year. Although targeted analyses have shown the presence of specific genetic abnormalities such as IGH translocations, RB1 deletion, 1q gain, hyperdiploidy or RAS genes mutations, little is known about the molecular mechanism of malignant transformation. We have performed whole exome sequencing together with CGH+SNP array analysis in 33 flow-cytometry separated abnormal plasma cell samples from MGUS patients to describe somatic gene mutations and chromosome changes at the genome-wide level...
May 26, 2017: Haematologica
keyword
keyword
56361
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"