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 intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar. Derivatives frequently originate from inter-chromosomal exchanges and sometimes are inherited from a parent who carries a reciprocal translocation. Case presentation:We present two cases with derivative chromosomes involving a 9.1 Mb 5p deletion/14.8 Mb 10p duplication in the first patient and a 19.9 Mb 5p deletion/ 18.5 Mb 9p duplication in the second patient. These long chromosomal imbalances were ascertained by aCGH but not by conventional cytogenetics. Both patients presented with a deletion of the Cri du chat syndrome region and a duplication of another genomic region. Each patient had a unique clinical picture, and although they presented some features of Cri du chat syndrome, the phenotype did not conclusively point towards this diagnosis, although a chromosomopathy was suspected. Conclusions:These cases highlight the fundamental role of the clinical suspicion in guiding the approach for the etiological diagnosis of patients. Molecular cytogenetics techniques, such as aCGH, should be considered when the clinician suspects the presence of a chromosomal imbalance in spite of a normal karyotype.
journal_name
Mol Cytogenetjournal_title
Molecular cytogeneticsauthors
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 Sdoi
10.1186/s13039-018-0374-4subject
Has Abstractpub_date
2018-05-09 00:00:00pages
30issn
1755-8166pii
374journal_volume
11pub_type
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: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
pub_type: 杂志文章
doi:10.1186/1755-8166-6-43
更新日期:2013-10-16 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
pub_type: 杂志文章
doi:10.1186/s13039-018-0366-4
更新日期:2018-02-05 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: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
更新日期:2014-06-05 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
pub_type:
doi:10.1186/s13039-014-0063-x
更新日期:2014-09-25 00:00:00
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
更新日期:2018-01-11 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: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: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
更新日期:2017-11-15 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: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: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: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
pub_type: 杂志文章
doi:10.1186/s13039-015-0210-z
更新日期:2016-01-26 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: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
pub_type:
doi:10.1186/s13039-020-00500-7
更新日期:2020-07-23 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::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:: 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: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
更新日期:2016-01-25 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: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
更新日期:2008-04-29 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
pub_type: 杂志文章
doi:10.1186/s13039-018-0362-8
更新日期:2018-01-30 00:00:00
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
更新日期:2018-03-09 00:00:00
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
更新日期:2013-04-01 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
pub_type: 杂志文章
doi:10.1186/s13039-018-0405-1
更新日期:2018-10-19 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
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: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
pub_type: 杂志文章
doi:10.1186/s13039-020-00498-y
更新日期:2020-07-08 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
pub_type:
doi:10.1186/s13039-019-0437-1
更新日期:2019-05-27 00:00:00