当前位置： SCI文献检索 > Molecular Cytogenetics期刊下所有文献 > Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization.

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 identify the chromosome of origin of SMCs, they are cumbersome to perform and are not available in many clinical cytogenetic laboratories. Furthermore, they cannot precisely determine the region or breakpoints of the chromosome(s) involved. In this study, we describe four patients who possess one or more SMCs (a total of eight SMCs in all four patients) that were characterized by microarray comparative genomic hybridization (array CGH). RESULTS:In at least one SMC from all four patients, array CGH uncovered unexpected complexity, in the form of complex rearrangements, that could have gone undetected using other molecular cytogenetic techniques. Although array CGH accurately defined the chromosome content of all but two minute SMCs, fluorescence in situ hybridization was necessary to determine the structure of the markers. CONCLUSION:The increasing use of array CGH in clinical cytogenetic laboratories will provide an efficient method for more comprehensive characterization of SMCs. Improved SMC characterization, facilitated by array CGH, will allow for more accurate SMC/phenotype correlation.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Tsuchiya KD,Opheim KE,Hannibal MC,Hing AV,Glass IA,Raff ML,Norwood T,Torchia BA

doi

10.1186/1755-8166-1-7

subject

Has Abstract

pub_date

2008-04-21 00:00:00

pages

7

issn

1755-8166

pii

1755-8166-1-7

journal_volume

1

pub_type

杂志文章

相关文献

Molecular Cytogenetics文献大全
  • Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.

    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

    pub_type：

    doi：10.1186/s13039-018-0411-3

    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

  • Automated detection of residual cells after sex-mismatched stem-cell transplantation - evidence for presence of disease-marker negative residual cells.

    abstract：BACKGROUND:A new chimerism analysis based on automated interphase fluorescence in situ hybridization (FISH) evaluation was established to detect residual cells after allogene sex-mismatched bone marrow or blood stem-cell transplantation.Cells of 58 patients were characterized as disease-associated due to presence of a ...

    journal_title：Molecular cytogenetics

    pub_type： 杂志文章

    doi：10.1186/1755-8166-2-12

    authors： Erlecke J,Hartmann I,Hoffmann M,Kroll T,Starke H,Heller A,Gloria A,Sayer HG,Johannes T,Claussen U,Liehr T,Loncarevic IF

    更新日期：2009-05-29 00:00:00

  • Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome.

    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

    pub_type： 杂志文章

    doi：10.1186/s13039-015-0136-5

    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

  • Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.

    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

    pub_type： 杂志文章

    doi：10.1186/s13039-018-0369-1

    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

  • Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-2-24

    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

  • Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-1-9

    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

  • Monoallelic and biallelic deletions of 13q14 in a group of CLL/SLL patients investigated by CGH Haematological Cancer and SNP array (8x60K).

    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

    pub_type： 杂志文章

    doi：10.1186/s13039-015-0212-x

    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

  • A novel insertion ins(18;5)(q21.1;q31.2q35.1) in acute myeloid leukemia associated with microdeletions at 5q31.2, 5q35.1q35.2 and 18q12.3q21.1 detected by oligobased array comparative genomic hybridization.

    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

    pub_type：

    doi：10.1186/s13039-014-0063-x

    authors： Kjeldsen E

    更新日期：2014-09-25 00:00:00

  • Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.

    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

    pub_type：

    doi：10.1186/s13039-015-0137-4

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

    更新日期：2015-06-25 00:00:00

  • Global DNA Methylation patterns on marsupial and devil facial tumour chromosomes.

    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

    pub_type： 杂志文章

    doi：10.1186/s13039-015-0176-x

    authors： Ingles ED,Deakin JE

    更新日期：2015-10-01 00:00:00

  • 7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

    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

    pub_type：

    doi：10.1186/s13039-017-0345-1

    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

  • A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

    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

    pub_type：

    doi：10.1186/s13039-019-0440-6

    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

  • De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.

    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

    pub_type：

    doi：10.1186/s13039-020-00513-2

    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

  • Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-5-41

    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

  • Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.

    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

    pub_type： 杂志文章

    doi：10.1186/s13039-020-00491-5

    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

  • A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.

    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

    pub_type：

    doi：10.1186/1755-8166-7-40

    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

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

    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

    pub_type：

    doi：10.1186/s13039-014-0089-0

    authors： Al-Achkar W,Moassass F,Ikhtiar A,Liehr T,Othman MA,Wafa A

    更新日期：2014-11-29 00:00:00

  • Identification of small segmental translocations in patients with repeated implantation failure and recurrent miscarriage using next generation sequencing after in vitro fertilization/intracytoplasmic sperm injection.

    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

    pub_type：

    doi：10.1186/s13039-015-0207-7

    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

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

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-1-17

    authors： Karadeniz N,Mrasek K,Weise A

    更新日期：2008-08-07 00:00:00

  • FISH molecular testing in cytological preparations from solid tumors.

    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

    pub_type： 杂志文章

    doi：10.1186/s13039-014-0056-9

    authors： Caria P,Vanni R

    更新日期：2014-08-22 00:00:00

  • Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

    abstract：BACKGROUND:Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two pate...

    journal_title：Molecular cytogenetics

    pub_type：

    doi：10.1186/1755-8166-6-35

    authors： Horváth E,Horváth Z,Isaszegi D,Gergev G,Nagy N,Szabó J,Sztriha L,Széll M,Endreffy E

    更新日期：2013-09-08 00:00:00

  • Cytogenetic analysis in the neotropical fish Astyanax goyacensis Eigenmann, 1908 (Characidae, incertae sedis): karyotype description and occurrence of B microchromosomes.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-6-48

    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

  • Heteromorphic variants of chromosome 9.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-6-14

    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

  • A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.

    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

    pub_type：

    doi：10.1186/s13039-016-0267-3

    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

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

    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

    pub_type：

    doi：10.1186/s13039-018-0355-7

    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

  • Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-4-7

    authors： Morris CA,Mervis CB,Osborne LR

    更新日期：2011-02-28 00:00:00

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

    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

    pub_type：

    doi：10.1186/1755-8166-7-7

    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

  • Molecular cytogenetic characterization of Dasypyrum breviaristatum chromosomes in wheat background revealing the genomic divergence between Dasypyrum species.

    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

    pub_type： 杂志文章

    doi：10.1186/s13039-016-0217-0

    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

  • Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-6-47

    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

  • DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-4-18

    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