FISH molecular testing in cytological preparations from solid tumors.

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: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:Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. CASE PRESENTATION:Here we describe a 17-year-old male with choroi...

journal_title：Molecular cytogenetics

authors： Liang S,Jiang N,Li S,Jiang X,Yu D

更新日期：2017-06-14 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: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: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: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:Despite DNA methylation being one of the most widely studied epigenetic modifications in eukaryotes, only a few studies have examined the global methylation status of marsupial chromosomes. The emergence of devil facial tumour disease (DFTD), a clonally transmissible cancer spreading through the Tasmanian de...

journal_title：Molecular cytogenetics

authors： Ingles ED,Deakin JE

更新日期：2015-10-01 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: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: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: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: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: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:Large amounts of low copy number repeats in the 15q11.2q13.3 chromosomal region increase the possibility of misalignments and unequal crossover during meiosis in this region, leading to deletions, duplications, triplications and supernumerary chromosomes. Most of the reported cases with epilepsy, autism and ...

journal_title：Molecular cytogenetics

authors： Szabo A,Czako M,Hadzsiev K,Duga B,Komlosi K,Melegh B

更新日期：2015-06-25 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: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: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: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：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: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:Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS cau...

journal_title：Molecular cytogenetics

authors： Yokoyama E,Smith-Pellegrin DL,Sánchez S,Molina B,Rodríguez A,Juárez R,Lieberman E,Avila S,Castrillo JL,Del Castillo V,Frías S

更新日期：2017-11-15 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: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：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: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:GSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. However, taking into account that the deletion has no crucial effects on human well-being, and the ability of other GSTMs to comp...

journal_title：Molecular cytogenetics

authors： Khrunin AV,Filippova IN,Aliev AM,Tupitsina TV,Slominsky PA,Limborska SA

更新日期：2016-04-19 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：UNLABELLED:Barrett's esophagus (BE) is an asymptomatic, pre-malignant condition of the esophagus that can progress to esophageal adenocarcinoma (EAC). BE arises typically in individuals with long-standing gastroesophageal reflux disease (GERD). The neoplastic progression of BE has been extensively studied histologicall...

journal_title：Molecular cytogenetics

authors： Bajpai M,Aviv H,Das KM

更新日期：2012-11-29 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