FISH molecular testing in cytological preparations from solid tumors.

abstract：BACKGROUND:Roberts syndrome (RBS) is a rare autosomal recessive disorder mainly characterized by growth retardation, limb defects and craniofacial anomalies. Characteristic cytogenetic findings are "railroad track" appearance of chromatids and premature centromere separation in metaphase spreads. Mutations in the ESCO2...

journal_title：Molecular cytogenetics

authors： Dupont C,Bucourt M,Guimiot F,Kraoua L,Smiljkovski D,Le Tessier D,Lebugle C,Gerard B,Spaggiari E,Bourdoncle P,Tabet AC,Benzacken B,Dupont JM

更新日期：2014-09-30 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：:The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth fac...

journal_title：Molecular cytogenetics

authors： Furtado VF,Saini NY,Walsh W,Bathini V,Miron PM

更新日期：2018-10-19 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:To develop a novel preimplantation genetic screening (PGS) test using next generation sequencing(NGS) as a alternative to current array comparative genomic hybridization (array CGH) method for detection of small segmental translocations in two patients with repeated implantation failure (RIF) and recurrent m...

journal_title：Molecular cytogenetics

authors： Ou J,Wang W,Feng T,Liao L,Meng Q,Zou Q,Ding J,Zheng A,Duan C,Li P,Liu Q,Lin C,Li H

更新日期：2015-12-30 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: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

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: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：UNLABELLED: BACKGROUND:Acute lymphoblastic leukemia (ALL) is a heterogeneous form of hematological cancer consisting of various subtypes. We are interested to study the genetic aberration in precursor B-cell ALL with specific t(12;21) translocation in childhood ALL patients. A high resolution 244K array-based Comparat...

journal_title：Molecular cytogenetics

authors： Zakaria Z,Ahid MF,Ismail A,Keoh TS,Nor NM,Kamaluddin NR,Esa E,Yuen LK,Rahman EJ,Osman R

更新日期：2012-11-15 00:00:00

abstract：BACKGROUND:Partial duplications of the distal 9q have been rarely reported in literatures. The key features included characteristic facial appearance, long fingers and toes, slight psychomotor retardation, heart murmur et al. But rare severe congenital heart defects (CHD) such as TOF were reported to be associated with...

journal_title：Molecular cytogenetics

authors： Liu J,Hu H,Ma N,Jia Z,Zhou Y,Hu J,Wang H

更新日期：2016-07-25 00:00:00

abstract：BACKGROUND:Nonrandom clonal chromosomal aberrations can be detected in approximately 55% of adult patients with acute myeloid leukemia (AML). Recurrent cytogenetic abnormalities play an important role in diagnosis, classification and prognosis of AML. However, several chromosomal abnormalities have not been completely ...

journal_title：Molecular cytogenetics

authors： Kjeldsen E

更新日期：2014-09-25 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: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：Objective:Meningiomas are among the most frequent intracranial tumors. Although the majority of meningiomas can be cured by surgical resection, up to 20% of the patients develop an aggressive clinical course with tumor recurrence or progressive disease.Cytogenetically, meningiomas frequently harbour a normal karyotype ...

journal_title：Molecular cytogenetics

authors： Hemmer S,Urbschat S,Oertel J,Ketter R

更新日期：2019-05-24 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:Deletion of 13q14 is the most common cytogenetic change in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and is detected in about 50 % of patients by fluorescence in situ hybridization (FISH), which can reveal presence of del(13)(q14) and mono- or biallelic deletion status without informa...

journal_title：Molecular cytogenetics

authors： Grygalewicz B,Woroniecka R,Rygier J,Borkowska K,Rzepecka I,Łukasik M,Budziłowska A,Rymkiewicz G,Błachnio K,Nowakowska B,Bartnik M,Gos M,Pieńkowska-Grela B

更新日期：2016-01-06 00:00:00

abstract：Background:Amphidiploids generated by distant hybridization are commonly used as genetic bridge to transfer desirable genes from wild wheat species into cultivated wheat. This method is typically used to enhance the resistance of wheat to biotic or abiotic stresses, and to increase crop yield and quality. Tetraploid Th...

journal_title：Molecular cytogenetics

authors： Li D,Long D,Li T,Wu Y,Wang Y,Zeng J,Xu L,Fan X,Sha L,Zhang H,Zhou Y,Kang H

更新日期：2018-02-05 00:00:00

abstract：BACKGROUND:Rubus is a large and taxonomically complex genus exhibiting agamospermy, polyploidy and frequent hybridization. The objective of this work was to elucidate rDNA disrtibution pattern and investigate genomic composition of polyploids in 16 Rubus taxa (2n = 2x, 3x, 4x, 8x) of two subgenera Idaeobatus and Malach...

journal_title：Molecular cytogenetics

authors： Wang Y,Wang X,Chen Q,Zhang L,Tang H,Luo Y,Liu Z

更新日期：2015-02-03 00:00:00

abstract：BACKGROUND:Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two pate...

journal_title：Molecular cytogenetics

authors： Horváth E,Horváth Z,Isaszegi D,Gergev G,Nagy N,Szabó J,Sztriha L,Széll M,Endreffy E

更新日期：2013-09-08 00:00:00

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: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 de...

journal_title：Molecular cytogenetics

authors： Ghevaria H,Naja R,SenGupta S,Serhal P,Delhanty J

更新日期：2017-02-02 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: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：Background:Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromosome 15q13 microduplic...

journal_title：Molecular cytogenetics

authors： Lin CZ,Qi BR,Hu JS,Huang YD,Huang XQ

更新日期：2019-05-27 00:00:00

abstract：BACKGROUND:FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly,...

journal_title：Molecular cytogenetics

authors： Fryssira H,Tsoutsou E,Psoni S,Amenta S,Liehr T,Anastasakis E,Skentou Ch,Ntouflia A,Papoulidis I,Manolakos E,Chaliasos N

更新日期：2016-08-02 00:00:00

abstract：Background:The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, generally encompassing the DLEU1 and DLEU2 genes (minimal deleted region), but at times also including the ...

journal_title：Molecular cytogenetics

authors： Nava-Rodríguez MP,Domínguez-Cruz MD,Aguilar-López LB,Borjas-Gutiérrez C,Magaña-Torres MT,González-García JR

更新日期：2019-01-31 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:Chronic myeloid leukemia (CML) is genetically characterized by the occurrence of a reciprocal translocation t(9;22)(q34;q11), resulting in a BCR/ABL gene fusion on the derivative chromosome 22, i.e. the Philadelphia (Ph) chromosome. During CML progression 60-80% of the cases acquire additional genetic change...

journal_title：Molecular cytogenetics

authors： Al-Achkar W,Moassass F,Ikhtiar A,Liehr T,Othman MA,Wafa A

更新日期：2014-11-29 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