Overexpression of the proneural transcription factor ASCL1 in chronic lymphocytic leukemia with a t(12;14)(q23.2;q32.3).

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:Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype is associated with very poor prognosis. Case presentation:In our ...

journal_title：Molecular cytogenetics

authors： Smetana J,Oppelt J,Štork M,Pour L,Kuglík P

更新日期：2018-01-18 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: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: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: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: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: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：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:Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking of genetic disease, and somatic mosaicism; alternatively, the condition may be clinically silent. We...

journal_title：Molecular cytogenetics

authors： Kerr ER,Stuhlmiller GM,Maha GC,Ladd MA,Mikhail FM,Koester RP,Hurst ACE

更新日期：2018-12-20 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：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:Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorph...

journal_title：Molecular cytogenetics

authors： Kosyakova N,Grigorian A,Liehr T,Manvelyan M,Simonyan I,Mkrtchyan H,Aroutiounian R,Polityko AD,Kulpanovich AI,Egorova T,Jaroshevich E,Frolova A,Shorokh N,Naumchik IV,Volleth M,Schreyer I,Nelle H,Stumm M,Wegner RD,Rei

更新日期：2013-04-01 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: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: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：Background:In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and ...

journal_title：Molecular cytogenetics

authors： Yokoyama E,Del Castillo V,Sánchez S,Ramos S,Molina B,Torres L,Navarro MJ,Avila S,Castrillo JL,García-De Teresa B,Asch B,Frías S

更新日期：2018-05-09 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：: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：: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: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: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：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: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: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: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: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：: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: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: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