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 microduplication and cardiac disorders has not been fully understood. Case presentation:A fetus with fetal cardiac developmental defects was detected by Color Doppler ultrasound imaging; however, further chromosomal G-banding revealed no abnormal karyotype. Then, chromosomal microarray analysis (CMA) was performed and revealed a 1.8 Mb-duplication of the chromosome 15q13.2q13.3 region containing 7 genes (TRPM1, KLF13, OTUD7A, CHRNA7, FAN1, MIR211 and RAHGAP11A). Cardiac ultrasound follow-up displayed significant enlargement of the space-occupying lesion in the fetal heart with extension of the gestational age, and the space-occupying lesion was finally pathologically diagnosed as cardiac rhabdomyoma. Next-generation sequencing revealed no mutations in the TSC1 or TSC2 gene in the fetus, the mother or the father. Conclusions:This is the first report to demonstrate the potential association between chromosome 15q13 microduplication and fetal cardiac rhabdomyoma. It is recommended that CMA be employed in fetuses with abnormal cardiac development diagnosed by routine cardiac color Doppler ultrasound imaging for early detection of congenital genetic abnormality, which may provide valuable information for prenatal diagnostic consultation and the decision on pregnancy termination.
journal_name
Mol Cytogenetjournal_title
Molecular cytogeneticsauthors
Lin CZ,Qi BR,Hu JS,Huang YD,Huang XQdoi
10.1186/s13039-019-0437-1subject
Has Abstractpub_date
2019-05-27 00:00:00pages
24issn
1755-8166pii
437journal_volume
12pub_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: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: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
pub_type：
doi：10.1186/s13039-015-0119-6
更新日期：2015-02-28 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
pub_type：
doi：10.1186/s13039-016-0267-3
更新日期：2016-07-25 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: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
更新日期：2015-12-30 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: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
pub_type： 杂志文章
doi：10.1186/s13039-015-0114-y
更新日期：2015-02-03 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: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：: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: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: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: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 ...
journal_title：Molecular cytogenetics
pub_type：
doi：10.1186/s13039-019-0417-5
更新日期：2019-01-31 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：: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：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
pub_type： 杂志文章
doi：10.1186/s13039-016-0241-0
更新日期：2016-04-19 00:00:00
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
更新日期：2008-08-07 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: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：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: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: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: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
pub_type： 杂志文章
doi：10.1186/s13039-015-0178-8
更新日期：2015-09-29 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：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：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: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
pub_type： 杂志文章
doi：10.1186/1755-8166-3-11
更新日期：2010-06-29 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
