Hyperdiploidy associated with T315I mutation in BCR-ABL kinase domain in an accelerated phase-chronic myeloid leukemia case.

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:Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by molecular karyotyping or by two color fluorescence in sit...

journal_title：Molecular cytogenetics

authors： Liehr T,Schreyer I,Kuechler A,Manolakos E,Singer S,Dufke A,Wilhelm K,Jančušková T,Čmejla R,Othman MAK,Al-Rikabi AH,Mrasek K,Ziegler M,Kankel S,Kreskowski K,Weise A

更新日期：2018-03-09 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:The purpose of this study was to identify candidate metastasis suppressor genes from a mouse allograft model of prostate cancer (NE-10). This allograft model originally developed metastases by twelve weeks after implantation in male athymic nude mice, but lost the ability to metastasize after a number of in ...

journal_title：Molecular cytogenetics

authors： Yi Y,Nandana S,Case T,Nelson C,Radmilovic T,Matusik RJ,Tsuchiya KD

更新日期：2009-09-26 00:00:00

abstract：:Mutations of mediator subcomplex 12 (MED12) and of high mobility group protein AT-hook 2 (HMGA2) are driver mutations in uterine leiomyomas (UL) that have not been observed to coexist in one tumor and even rarely coexist in different UL tumors of one patient. Here we describe a patient who underwent hysterectomy becau...

journal_title：Molecular cytogenetics

authors： Holzmann C,Markowski DN,Bartnitzke S,Koczan D,Helmke BM,Bullerdiek J

更新日期：2015-10-14 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：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:The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 prenatal samples. We present a case of mosaic sSMC diagnosed prenatally after amniocen...

journal_title：Molecular cytogenetics

authors： Kitsiou-Tzeli S,Manolakos E,Lagou M,Kontodiou M,Kosyakova N,Ewers E,Weise A,Garas A,Orru S,Liehr T,Metaxotou A

更新日期：2009-01-07 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:Chromosomal rearrangements in addition to t(15;17) have been reported in 25-40% of APL patients, with a large predominance of trisomy 8. Other abnormalities are far less frequent, particularly as ider(17), and the prognostic significance is still unclear. Case presentation:We present the case of a patient w...

journal_title：Molecular cytogenetics

authors： Liu Y,Xu J,Chu L,Yu L,Zhang Y,Ma L,Wang W,Zhang Y,Xu Y,Liu R

更新日期：2020-04-10 00:00:00

abstract：BACKGROUND:Meiotic chromosome preparation is a key step in plant meiotic research. Pollen mother cell (PMC) wall elimination is beneficial to cytogenetic experimental procedures. Without wall interference, these procedures are easier and more successful. In existing methods it is difficult to eliminate PMC walls comple...

journal_title：Molecular cytogenetics

authors： Dang J,Zhao Q,Yang X,Chen Z,Xiang S,Liang G

更新日期：2015-10-24 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:The 4q- syndrome is a well known genetic condition caused by a partial terminal or interstitial deletion in the long arm of chromosome 4. The great variability in the extent of these deletions and the possible contribution of additional genetic rearrangements, such as unbalanced translocations, lead to a wid...

journal_title：Molecular cytogenetics

authors： Manolakos E,Kefalas K,Vetro A,Oikonomidou E,Daskalakis G,Psara N,Siomou E,Papageorgiou E,Sevastopoulou E,Konstantinidou A,Vrachnis N,Thomaidis L,Zuffardi O,Papoulidis I

更新日期：2013-10-31 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：:Despite the theoretical and experimental progress, our understanding on sex chromosome differentiation is still diagrammatic. The accumulation of repetitive DNA sequences is believed to occur in early stages of such differentiation. As fish species present a wide range of sex chromosome systems they are excellent mode...

journal_title：Molecular cytogenetics

authors： Xu D,Lou B,Bertollo LA,Cioffi Mde B

更新日期：2013-03-19 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: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: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: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: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: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：: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：: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：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:Ring chromosomes are normally associated with developmental anomalies and are rarely inherited. An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to investigate the meiotic segregation at oogenesis in a woman who is a carrier of a deleted/ring 22 chromos...

journal_title：Molecular cytogenetics

authors： Mantzouratou A,Mania A,Apergi M,Laver S,Serhal P,Delhanty J

更新日期：2009-01-23 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: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: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：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: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