Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding.

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：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: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

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: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: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: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: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：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: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: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: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: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: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: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: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：: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: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: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：: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：: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: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: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: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: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：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: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: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