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 features. Large 13q deletions with severe clinical phenotype are nearly always the result of a de novo mutation, i.e. the pathogenic alteration is not detected in parents. This results in a low risk for siblings to develop 13q deletion syndrome. Result:Here, we describe a patient with profound muscle hypotonia, severe developmental delay and bilateral retinoblastoma carrying a large deletion in 13q13.3q14 with the size of 16 Mb, involving the RB1 gene. Neither parent showed retinoblastoma, muscle hypotonia or developmental delay. Chromosome analysis and Fluorescence in situ hybridization (FISH) showed a balanced complex chromosomal rearrangement (CCR) between chromosome 12 and 13 [ins(12;13)(q21.2;q12.3q14.3)] and an additional balanced translocation of chromosome 7 and 15 [t(7;15)(q31.2;q25.3)] in the healthy father. Malsegregation of the paternal insertional translocation involving chromosome 12 and 13 resulted in a 13q deletion syndrome of the child [46,XY,ins(12;13)(q21.2;q12.3q14.3)]. Conclusion:Balanced translocations in parents are a rare cause of de novo RB1 deletions in offspring. This case report emphasizes the need for parental chromosomal analysis and FISH in parents of children diagnosed with 13q deletion syndrome or large RB1 gene deletions to precisely determine the recurrence risk in siblings. Guidelines for genetic testing should be revised accordingly.
journal_name
Mol Cytogenetjournal_title
Molecular cytogeneticsauthors
Dittner-Moormann S,Reschke M,Biewald E,Kuechler A,Klein B,Timmermann B,Lohmann D,Ketteler P,Kanber Ddoi
10.1186/s13039-020-00500-7subject
Has Abstractpub_date
2020-07-23 00:00:00pages
31issn
1755-8166pii
500journal_volume
13pub_type
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::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: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: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: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 well-known typical fusion gene BCR/ABL can be observed in connection with a complex translocation event in only 2-10% of cases with chronic myeloid leukemia (CML). As currently most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though the...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-2-21
更新日期:2009-11-09 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: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: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: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: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: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: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: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: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: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
abstract:UNLABELLED:Barrett's esophagus (BE) is an asymptomatic, pre-malignant condition of the esophagus that can progress to esophageal adenocarcinoma (EAC). BE arises typically in individuals with long-standing gastroesophageal reflux disease (GERD). The neoplastic progression of BE has been extensively studied histologicall...
journal_title:Molecular cytogenetics
pub_type: 杂志文章
doi:10.1186/1755-8166-5-43
更新日期:2012-11-29 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: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: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: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: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
更新日期:2009-05-29 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::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: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: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
更新日期:2009-09-26 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: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:Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported. CASE PRESENTATION:Here we describe a 17-year-old male with choroi...
journal_title:Molecular cytogenetics
pub_type:
doi:10.1186/s13039-017-0324-6
更新日期:2017-06-14 00:00:00