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 yet identified, several data suggest that POI has a strong genetic component. Conventional cytogenetic and molecular analyses have identified regions of the X chromosome that are associated with ovarian function, as well as POI candidate genes, such as FMR1 and DIAPH2. Here we describe a 10.5-year-old girl presenting with high FSH and luteinizing hormone (LH) levels, pathologic GH stimulation arginine and clonidine tests, short stature, pterygium, ovarian dysgenesis, hirsutism and POI. RESULTS:Cytogenetic analysis demonstrated a balanced reciprocal translocation between the q arms of chromosomes X and 1, with breakpoints falling in Xq21 and 1q41 bands. Molecular studies did not unravel any chromosome microdeletion/microduplication, and no XIST-mediated inactivation was found on the derivative chromosome 1. Interestingly, through immunofluorescence assays, we found that part of the Xq21q22 trait, translocated to chromosome 1q41, was late replicating and therefore possibly inactivated in 30 % metaphases both in lymphocytes and skin fibroblasts, in addition to a skewed 100 % inactivation of the normal X chromosome. These findings suggest that a dysregulation of gene expression might occur in this region. Two genes mapping to the Xq translocated region, namely DIAPH2 and FMR1, were found overexpressed if compared with controls. CONCLUSIONS:We report a case in which gonadal dysgenesis and POI are associated with over-expression of DIAPH2 gene and of FMR1 gene in wild type form. We hypothesize that this over-expression is possibly due to a phenomenon known as "chromosomal position effect", which accounts for gene expression variations depending on their localization within the nucleus. For the same effect a double mosaic inactivation of genes mapping to the Xq21-q22 region, demonstrated by immunofluorescence assays, may be the cause of a functional Xq partial monosomy leading to most Turner traits of the proband's phenotype.
journal_name
Mol Cytogenetjournal_title
Molecular cytogeneticsauthors
Genesio R,Mormile A,Licenziati MR,De Brasi D,Leone G,Balzano S,Izzo A,Bonfiglio F,Conti A,Fioretti G,Lenta S,Poggiano MR,Siani P,Nitsch Ldoi
10.1186/s13039-015-0154-3subject
Has Abstractpub_date
2015-07-15 00:00:00pages
50issn
1755-8166pii
154journal_volume
8pub_type
abstract:BACKGROUND:Ring chromosomes are normally associated with developmental anomalies and are rarely inherited. An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to investigate the meiotic segregation at oogenesis in a woman who is a carrier of a deleted/ring 22 chromos...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-2-3
更新日期:2009-01-23 00:00:00
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
更新日期:2016-01-06 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::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
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更新日期:2020-06-26 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: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:Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic diagnosis (PGD) enabling de...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/s13039-017-0303-y
更新日期:2017-02-02 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
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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
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journal_title:Molecular cytogenetics
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doi:10.1186/s13039-020-00513-2
更新日期:2020-09-12 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 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: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
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-019-0437-1
更新日期:2019-05-27 00:00:00
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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
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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
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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
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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
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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
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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: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: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
更新日期:2014-11-29 00:00:00
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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: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: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
更新日期:2015-10-24 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: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
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journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-018-0411-3
更新日期:2018-12-20 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: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