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 RB1 gene. The latter, larger type of deletions are associated with worse prognosis.Genomic instability is a characteristic of most cancers and it has been observed in CLL patients mainly associated with telomere shortening. Case presentation:Cytogenetic and fluorescence in situ hybridization studies of a CLL patient showed a chromosomal translocation t(12;13)(q15;q14), a mono-allelic 13q14 deletion encompassing both the DLEU and RB1 genes, and genomic instability manifested as chromosomal breaks, telomeric associations, binucleated cells, nucleoplasmic bridges, and micronucleated cells.In conclusion, our CLL patient showed genomic instability in conjunction with a 13q14 deletion of approximately 2.6 megabase pair involving the DLEU and RB1 genes, as well as other genes with potential for producing genomic instability due to haploinsufficiency.
journal_name
Mol Cytogenetjournal_title
Molecular cytogeneticsauthors
Nava-Rodríguez MP,Domínguez-Cruz MD,Aguilar-López LB,Borjas-Gutiérrez C,Magaña-Torres MT,González-García JRdoi
10.1186/s13039-019-0417-5subject
Has Abstractpub_date
2019-01-31 00:00:00pages
2issn
1755-8166pii
417journal_volume
12pub_type
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
更新日期:2011-02-28 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
pub_type:
doi:10.1186/s13039-018-0374-4
更新日期:2018-05-09 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
pub_type:
doi:10.1186/s13039-020-00513-2
更新日期:2020-09-12 00:00:00
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
pub_type:
doi:10.1186/s13039-014-0083-6
更新日期:2014-11-19 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
pub_type: 杂志文章
doi:10.1186/1755-8166-2-24
更新日期:2009-12-01 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
pub_type:
doi:10.1186/s13039-018-0357-5
更新日期:2018-01-18 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
pub_type:
doi:10.1186/s13039-015-0177-9
更新日期:2015-10-14 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
pub_type:
doi:10.1186/s13039-016-0269-1
更新日期:2016-08-02 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
pub_type: 杂志文章
doi:10.1186/1755-8166-6-12
更新日期:2013-03-19 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
pub_type: 杂志文章
doi:10.1186/1755-8166-5-41
更新日期:2012-11-15 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
pub_type: 杂志文章
doi:10.1186/s13039-020-00491-5
更新日期:2020-06-26 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
pub_type:
doi:10.1186/s13039-019-0460-2
更新日期:2019-11-19 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
pub_type:
doi:10.1186/s13039-019-0440-6
更新日期:2019-06-14 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
pub_type: 杂志文章
doi:10.1186/1755-8166-6-48
更新日期:2013-11-05 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
pub_type: 杂志文章
doi:10.1186/s13039-014-0056-9
更新日期:2014-08-22 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
pub_type: 杂志文章
doi:10.1186/1755-8166-1-7
更新日期:2008-04-21 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
pub_type: 杂志文章
doi:10.1186/1755-8166-2-1
更新日期:2009-01-07 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
pub_type: 杂志文章
doi:10.1186/s13039-015-0136-5
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
pub_type:
doi:10.1186/s13039-016-0267-3
更新日期:2016-07-25 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
pub_type: 杂志文章
doi:10.1186/1755-8166-4-18
更新日期:2011-09-08 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
pub_type: 杂志文章
doi:10.1186/s13039-019-0434-4
更新日期:2019-05-24 00:00:00
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
更新日期:2013-09-08 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
pub_type: 杂志文章,评审
doi:10.1186/s13039-016-0216-1
更新日期:2016-01-22 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
pub_type: 杂志文章
doi:10.1186/s13039-015-0176-x
更新日期:2015-10-01 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
pub_type:
doi:10.1186/s13039-015-0154-3
更新日期:2015-07-15 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
pub_type:
doi:10.1186/s13039-020-00479-1
更新日期:2020-04-10 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
pub_type: 杂志文章
doi:10.1186/s13039-014-0059-6
更新日期:2014-09-30 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
pub_type:
doi:10.1186/s13039-015-0137-4
更新日期:2015-06-25 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
pub_type:
doi:10.1186/s13039-016-0231-2
更新日期:2016-02-25 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
pub_type: 杂志文章
doi:10.1186/1755-8166-6-47
更新日期:2013-10-31 00:00:00