Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm.

abstract：Background:Retinoblastoma is a malignancy of the eye in children characterized by biallelic inactivation of the retinoblastoma 1 gene (RB1), located at chromosome 13q14.2. Children with interstitial chromosome 13q deletions that include the RB1 gene show a predisposition to develop retinoblastoma and variable other fea...

journal_title：Molecular cytogenetics

authors： Dittner-Moormann S,Reschke M,Biewald E,Kuechler A,Klein B,Timmermann B,Lohmann D,Ketteler P,Kanber D

更新日期：2020-07-23 00:00:00

abstract：BACKGROUND:Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmo...

journal_title：Molecular cytogenetics

authors： Hadzsiev K,Komlosi K,Czako M,Duga B,Szalai R,Szabo A,Postyeni E,Szabo T,Kosztolanyi G,Melegh B

更新日期：2016-02-25 00:00:00

abstract：BACKGROUND:Pure interstitial duplications of chromosome band 4p16.3 represent an infrequent chromosomal finding with, to the best of our knowledge, only two patients to date reported. CASE PRESENTATION:We report on a 13-year-old boy showing a set of dysmorphic facial features, attention deficit hyperactivity disorders...

journal_title：Molecular cytogenetics

authors： Palumbo O,Palumbo P,Ferri E,Riviello FN,Cloroformio L,Carella M,Di Giacomo MC

更新日期：2015-02-28 00:00:00

abstract：BACKGROUND:MYCN oncogene amplification is the most important prognostic factor in neuroblastoma. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations and their potential role in carcinogenesis. Here, we have performed an array-CGH and qPCR character...

journal_title：Molecular cytogenetics

authors： Lipska BS,Koczkowska M,Wierzba J,Ploszynska A,Iliszko M,Izycka-Swieszewska E,Adamkiewicz-Drozynska E,Limon J

更新日期：2013-10-16 00:00:00

abstract：:Many of the exciting new developments in solid tumor molecular cytogenetics impact classical and molecular pathology. Fluorescence in situ hybridization to identify specific DNA target sequences in nuclei of non-dividing cells in solid neoplasms has contributed to the integration of molecular cytogenetics into cytolog...

journal_title：Molecular cytogenetics

authors： Caria P,Vanni R

更新日期：2014-08-22 00:00:00

abstract：Background:Chromosome translocations are rare but frequently associated with infertility. The objective of this study is to investigate the feasibility of using chromosomal microarray analysis (CMA) on products of conception (POC) samples as an indicator of parental balanced translocation. From January 2011 to December...

journal_title：Molecular cytogenetics

authors： Qian YQ,Fu XY,Wang XQ,Luo YQ,Chen M,Yan K,Yang YM,Liu B,Wang LY,Huang YZ,Li HG,Pan HY,Jin F,Dong MY

更新日期：2018-01-30 00:00:00

abstract：BACKGROUND:We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before. RESULT:Array comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdelet...

journal_title：Molecular cytogenetics

authors： Natiq A,Elalaoui SC,Miesch S,Bonnet C,Jonveaux P,Amzazi S,Sefiani A

更新日期：2014-06-05 00:00:00

abstract：BACKGROUND:Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial primordial follicle number, high follicle-stimulating hormone (FSH) levels and hypoestrogenism. Although the etiology of a majority of POI cases is not y...

journal_title：Molecular cytogenetics

authors： Genesio R,Mormile A,Licenziati MR,De Brasi D,Leone G,Balzano S,Izzo A,Bonfiglio F,Conti A,Fioretti G,Lenta S,Poggiano MR,Siani P,Nitsch L

更新日期：2015-07-15 00:00:00

abstract：:Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL by microarray and select three new recurrent CNVs to evaluate by real-time PCR assay: DMBT1, KIAA0125 and PRDM1...

journal_title：Molecular cytogenetics

authors： Batista-Gomes JA,Mello FAR Jr,de Oliveira EHC,de Souza MPC,Wanderley AV,da Costa Pantoja L,Dos Santos NPC,Khayat BCM,Khayat AS

更新日期：2020-06-26 00:00:00

abstract：BACKGROUND:Copy number variations (CNVs) having no (obvious) clinical effects were rediscovered as major part of human genome in 2004. However, for every cytogeneticist microscopically visible harmless CNVs (CG-CNVs) are well known since decades. Harmless CG-CNVs can be present as heterochromatic or even as euchromatic...

journal_title：Molecular cytogenetics

authors： Liehr T

更新日期：2016-01-22 00:00:00

abstract：: Inversion of the Williams syndrome (WS) region on chromosome 7q11.23 has previously been shown to occur at a higher frequency in the transmitting parents of children with WS than in the general population, suggesting that it predisposes to the WS deletion. Frohnauer et al. recently reported that the frequency of this...

journal_title：Molecular cytogenetics

authors： Morris CA,Mervis CB,Osborne LR

更新日期：2011-02-28 00:00:00

abstract：Background:Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects. Case presentation:We report on a patien...

journal_title：Molecular cytogenetics

authors： Restaldi F,Alesi V,Aquilani A,Genovese S,Russo S,Coletti V,Pompili D,Falasca R,Dallapiccola B,Capolino R,Luciani M,Novelli A

更新日期：2019-06-14 00:00:00

abstract：BACKGROUND:Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) - up to date about 260 cases...

journal_title：Molecular cytogenetics

authors： Lazarczyk E,Drozniewska M,Pasinska M,Stasiewicz-Jarocka B,Midro AT,Haus O

更新日期：2014-11-19 00:00:00

abstract：BACKGROUND:Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below the resolution of conventional chromosome analysis. It has been presumed that whole-genome oligonucle...

journal_title：Molecular cytogenetics

authors： Neill NJ,Torchia BS,Bejjani BA,Shaffer LG,Ballif BC

更新日期：2010-06-29 00:00:00

abstract：BACKGROUND:Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological malignancies. In MDS patients with a fibrotic bone marrow the aspiration of cells often fails (dry-tap), which hampers standard karyotyping. Obtaining genetic data from these fibrotic marrows is therefore challenging, and up ti...

journal_title：Molecular cytogenetics

authors： Stevens-Kroef MJ,Hebeda KM,Verwiel ET,Kamping EJ,van Cleef PH,Kuiper RP,Groenen PJ

更新日期：2015-05-28 00:00:00

abstract：BACKGROUND:B chromosomes, also known as supernumerary or accessory chromosomes, are additional chromosomes over the standard complement found in various groups of plants and animals. We investigated the presence of, and characterized, supernumerary microchromosomes in Astyanax goyacensis using classical and molecular c...

journal_title：Molecular cytogenetics

authors： Dos Santos LP,Castro JP,Francisco CM,Vicari MR,de Almeida MC,Goll LG,Morelli S,Artoni RF

更新日期：2013-11-05 00:00:00

abstract：BACKGROUND:About 10 -15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluating the efficiency of...

journal_title：Molecular cytogenetics

authors： Shen J,Wu W,Gao C,Ochin H,Qu D,Xie J,Gao L,Zhou Y,Cui Y,Liu J

更新日期：2016-01-26 00:00:00

abstract：Background:Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developmental delay and intell...

journal_title：Molecular cytogenetics

authors： Azad AK,Yanakakis L,Issleb S,Turina J,Drabik K,Bonner C,Simi E,Wagner A,Fiddler M,Naeem R

更新日期：2020-09-12 00:00:00

abstract：BACKGROUND:Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromosomal translocations are rarely seen in the general population but the frequency of occurrence is anti...

journal_title：Molecular cytogenetics

authors： Karadeniz N,Mrasek K,Weise A

更新日期：2008-08-07 00:00:00

abstract：BACKGROUND:Infertility is a natural mechanism of selection intended to prevent the delivery of a child with malformations or mental retardation. Male infertility is closely related to chromosomal abnormalities. This study was focused on the analysis of meiotic segregation involving a Robertsonian translocation, 45,XY,d...

journal_title：Molecular cytogenetics

authors： Juchniuk de Vozzi MS,Santos SA,Pereira CS,Cuzzi JF,Laureano LA,Franco JG Jr,Martelli L

更新日期：2009-12-01 00:00:00

abstract：Background:Translocations of the IGH locus on 14q32.3 are present in about 8% of patients with chronic lymphocytic leukemia (CLL) and contribute to leukemogenesis by deregulating the expression of the IGH-partner genes. Identification of these genes and investigation of the downstream effects of their deregulation can ...

journal_title：Molecular cytogenetics

authors： Malli T,Rammer M,Haslinger S,Burghofer J,Burgstaller S,Boesmueller HC,Marschon R,Kranewitter W,Erdel M,Deutschbauer S,Webersinke G

更新日期：2018-01-11 00:00:00

abstract：BACKGROUND:Even though comparative nuclear architecture studies in hominoids are sparse, nuclear chromosome architecture was shown to be conserved during hominoid evolution. Thus, it is suspected that yet unknown biological mechanisms must underlie this observation. RESULTS:Here for the first time a combination of mul...

journal_title：Molecular cytogenetics

authors： Manvelyan M,Hunstig F,Mrasek K,Bhatt S,Pellestor F,Weise A,Liehr T

更新日期：2008-04-29 00:00:00

abstract：Background:22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese popu...

journal_title：Molecular cytogenetics

authors： Li S,Jin Y,Yang J,Yang L,Tang P,Zhou C,Wu L,Dong J,Chen J,Shen H

更新日期：2020-07-08 00:00:00

abstract：BACKGROUND:Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans that is mediated by potentially cruciform-forming sequences at the breakpoints, palindromic AT-rich ...

journal_title：Molecular cytogenetics

authors： Kato T,Inagaki H,Tong M,Kogo H,Ohye T,Yamada K,Tsutsumi M,Emanuel BS,Kurahashi H

更新日期：2011-09-08 00:00:00

abstract：BACKGROUND:The well-known typical fusion gene BCR/ABL can be observed in connection with a complex translocation event in only 2-10% of cases with chronic myeloid leukemia (CML). As currently most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though the...

journal_title：Molecular cytogenetics

authors： Al Achkar W,Wafa A,Mkrtchyan H,Moassass F,Liehr T

更新日期：2009-11-09 00:00:00

abstract：BACKGROUND:The uncultivated species Dasypyrum breviaristatum carries novel diseases resistance and agronomically important genes of potential use for wheat improvement. The development of new wheat-D. breviaristatum derivatives lines with disease resistance provides an opportunity for the identification and localizatio...

journal_title：Molecular cytogenetics

authors： Li G,Gao D,Zhang H,Li J,Wang H,La S,Ma J,Yang Z

更新日期：2016-01-25 00:00:00

abstract：:Reported cases of "pure" duplication of the entire short arm of chromosome 16 (16p) are rare, with only 7 patients described in the literature. We report on a female infant with de novo 16p duplication localized to the short arm of chromosome 6, detected by chromosomal analysis and characterized by array CGH and fluor...

journal_title：Molecular cytogenetics

authors： Schwaibold EM,Bartels I,Küster H,Lorenz M,Burfeind P,Adam R,Zoll B

更新日期：2014-01-23 00:00:00

abstract：Background:Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) that progressed from myelodysplastic syndrome (MDS) in association with acquisition of 1q JTs. The sequ...

journal_title：Molecular cytogenetics

authors： Lee I,Gudipati MA,Waters E,Duong VH,Baer MR,Zou Y

更新日期：2019-11-19 00:00:00

abstract：BACKGROUND:Supernumerary marker chromosomes (SMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified by conventional banding techniques. In the past, SMCs have been characterized using a variety of different molecular cytogenetic techniques. Although these techniques can sometimes iden...

journal_title：Molecular cytogenetics

authors： Tsuchiya KD,Opheim KE,Hannibal MC,Hing AV,Glass IA,Raff ML,Norwood T,Torchia BA

更新日期：2008-04-21 00:00:00

abstract：BACKGROUND:Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other seizure phenotypes. Loss-of-function mutations of STXBP1 have also been identified in some patients with...

journal_title：Molecular cytogenetics

authors： Ehret JK,Engels H,Cremer K,Becker J,Zimmermann JP,Wohlleber E,Grasshoff U,Rossier E,Bonin M,Mangold E,Bevot A,Schön S,Heilmann-Heimbach S,Dennert N,Mathieu-Dramard M,Lacaze E,Plessis G,de Broca A,Jedraszak G,Röthlis

更新日期：2015-09-29 00:00:00