De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

abstract：BACKGROUND:Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromosomal translocations are rarely seen in the general population but the frequency of occurrence is anti...

journal_title：Molecular cytogenetics

authors： Karadeniz N,Mrasek K,Weise A

更新日期：2008-08-07 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: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: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: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: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: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：: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: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: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: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: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: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: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: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: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: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: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：: 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: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 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: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: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: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：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：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：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: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：: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