当前位置： SCI文献检索 > Molecular Cytogenetics期刊下所有文献 > Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication.

Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication.

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, learning difficulties, speech and cognitive delays, overgrowth and musculoskeletal anomalies in whom an interstitial duplication of about 400 kb in 4p16.3 was detected by SNP-array analysis. The duplication includes the complete coding sequence of FAM53A, SLBP, TMEM129 and TACC3 genes and the first exon of the FGFR3 gene. Phenotypic comparison with previously described patients harboring a microduplication of similar size and position contributes to better define the clinical correlation of 4p16.3 microduplications, suggesting the existence of a novel distinct and phenotypically recognizable syndrome. In addition, being the duplication identified in our case the smallest so far reported, it allowed us to refine the smallest region of overlap among patients to 222 kb, enabling a more accurate genotype-phenotype correlation for 4p16.3 microduplications. CONCLUSIONS:Our case report provide clinical and molecular evidences supporting the existence of a novel 4p16.3 microduplication syndrome. The genes FAM53A, TACC3 and FGFR3 seems to play a key role in the etiology of the clinical phenotype. Interestingly, our patient is the oldest described so far and for this reason useful to delineate the long-term prognosis of these patients.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Palumbo O,Palumbo P,Ferri E,Riviello FN,Cloroformio L,Carella M,Di Giacomo MC

doi

10.1186/s13039-015-0119-6

subject

Has Abstract

pub_date

2015-02-28 00:00:00

pages

15

issn

1755-8166

pii

119

journal_volume

8

pub_type

相关文献

Molecular Cytogenetics文献大全
  • Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants.

    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

    authors： Liehr T

    更新日期：2016-01-22 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

  • Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report.

    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

    authors： Lin CZ,Qi BR,Hu JS,Huang YD,Huang XQ

    更新日期：2019-05-27 00:00:00

  • A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome.

    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

    authors： Liu Y,Xu J,Chu L,Yu L,Zhang Y,Ma L,Wang W,Zhang Y,Xu Y,Liu R

    更新日期：2020-04-10 00:00:00

  • Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.

    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

    authors： Neill NJ,Torchia BS,Bejjani BA,Shaffer LG,Ballif BC

    更新日期：2010-06-29 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

  • 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

  • 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

  • A feasible diagnostic approach for the translocation carrier from the indication of products of conception.

    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

    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

  • 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

  • Candidate metastasis suppressor genes uncovered by array comparative genomic hybridization in a mouse allograft model of prostate cancer.

    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

    pub_type： 杂志文章

    doi：10.1186/1755-8166-2-18

    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

  • 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

  • On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

    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

    authors： Lipska BS,Koczkowska M,Wierzba J,Ploszynska A,Iliszko M,Izycka-Swieszewska E,Adamkiewicz-Drozynska E,Limon J

    更新日期：2013-10-16 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

  • 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

  • Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm.

    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

    authors： Furtado VF,Saini NY,Walsh W,Bathini V,Miron PM

    更新日期：2018-10-19 00:00:00

  • Phylogenetic insight into subgenera Idaeobatus and Malachobatus (Rubus, Rosaceae) inferring from ISH analysis.

    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

    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

  • Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

    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

    authors： Smetana J,Oppelt J,Štork M,Pour L,Kuglík P

    更新日期：2018-01-18 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

  • 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

  • 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

  • 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

  • Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology.

    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

    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

  • 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

  • A modified method for preparing meiotic chromosomes based on digesting pollen mother cells in suspension.

    abstract：BACKGROUND:Meiotic chromosome preparation is a key step in plant meiotic research. Pollen mother cell (PMC) wall elimination is beneficial to cytogenetic experimental procedures. Without wall interference, these procedures are easier and more successful. In existing methods it is difficult to eliminate PMC walls comple...

    journal_title：Molecular cytogenetics

    pub_type： 杂志文章

    doi：10.1186/s13039-015-0184-x

    authors： Dang J,Zhao Q,Yang X,Chen Z,Xiang S,Liang G

    更新日期：2015-10-24 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

  • Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.

    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

    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

  • Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay.

    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

    authors： Fryssira H,Tsoutsou E,Psoni S,Amenta S,Liehr T,Anastasakis E,Skentou Ch,Ntouflia A,Papoulidis I,Manolakos E,Chaliasos N

    更新日期：2016-08-02 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

  • 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