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Case Report
Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is cons...
Molecular Cytogenetics 2017 10:35
Published on: 11 September 2017
Case Report
Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012)...
Molecular Cytogenetics 2017 10:34
Published on: 7 September 2017
Case Report
Homozygous mutations and deletions of the microcephalin gene (MCPH1; OMIM *607117) have been identified as a cause of autosomal recessive primary microcephaly and intellectual disability (MIM #251200). Previous s...
Molecular Cytogenetics 2017 10:33
Published on: 5 September 2017
Case Report
Complex chromosomal rearrangements (CCRs) are constitutional structural rearrangements that involve three or more chromosomes or that have more than two breakpoints.
Molecular Cytogenetics 2017 10:32
Published on: 2 September 2017
Research
Whole exome sequencing (WES) has been widely accepted as a robust and cost-effective approach for clinical genetic testing of small sequence variants. Detection of copy number variants (CNV) within WES data ha...
Molecular Cytogenetics 2017 10:30
Published on: 23 August 2017
Research
Carriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn syndrome (WHS) due to monosomy 4p, a priori modified...
Molecular Cytogenetics 2017 10:29
Published on: 4 August 2017
Research
Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have...
Molecular Cytogenetics 2017 10:28
Published on: 25 July 2017
Methodology
Genetic abnormalities, including chromosomal translocations, are described for many hematological malignancies. From the clinical perspective, detection of chromosomal abnormalities is relevant not only for di...
Molecular Cytogenetics 2017 10:27
Published on: 20 July 2017
Research
Our aim was to set the FISH combination of del(17p13), t(4;14), 1q21 gain and del(1p32), four adverse cytogenetic factors rarely evaluated together, and compare our technical thresholds with those defined in t...
Molecular Cytogenetics 2017 10:26
Published on: 1 July 2017
Meeting Abstracts
Molecular Cytogenetics 2017 10(Suppl 1):20
Published on: 29 June 2017
This article is part of a Supplement: Volume 10 Supplement 1
Research
Atypical lipomatous tumor (ALT), well differentiated liposarcoma (WDLS) and dedifferentiated liposarcoma (DDLS) are cytogenetically characterized by near-diploid karyotypes with no or few other aberrations tha...
Molecular Cytogenetics 2017 10:25
Published on: 24 June 2017
Meeting abstracts
Molecular Cytogenetics 2017 10(Suppl 2):21
Published on: 22 June 2017
This article is part of a Supplement: Volume 10 Supplement 2
Case Report
Duplications or deletions in the 12q13.13 region are rare. Only scattered cases with duplications and/or deletions in this region have been reported in the literature or in online databases. Owing to the limit...
Molecular Cytogenetics 2017 10:24
Published on: 19 June 2017
Case Report
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 ...
Molecular Cytogenetics 2017 10:23
Published on: 14 June 2017
Case Report
Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosom...
Molecular Cytogenetics 2017 10:22
Published on: 13 June 2017
Review
Mosaicism for an autosomal structural rearrangement (Rea) associated with clinical manifestation of chromosomal imbalance is rare. Consequently, there is a lack of basic epidemiological characterization of thi...
Molecular Cytogenetics 2017 10:18
Published on: 19 May 2017
Short report
Chronic myelogenous leukemia (CML) is a pluripotent hematopoietic stem cell disorder caused by the fusion of the BCR and ABL1 genes. Quantitative RT-PCR (qRT-PCR) is a routinely performed screening technique to i...
Molecular Cytogenetics 2017 10:19
Published on: 19 May 2017
Research
Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory...
Molecular Cytogenetics 2017 10:17
Published on: 8 May 2017
Research
To assess the influence of molecular markers with potential prognostic value to groups of patients with newly diagnosed glioblastoma patients were examined: group A with 36 patients (surgical resection plus st...
Molecular Cytogenetics 2017 10:16
Published on: 4 May 2017
Case Report
Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/...
Molecular Cytogenetics 2017 10:15
Published on: 28 April 2017
Research
Chromosomal mosaicism is observed as the presence of both euploid and aneuploid cells in a particular blastocyst. Recent studies have reported that the implantation rate of mosaic embryo transfer is remarkably...
Molecular Cytogenetics 2017 10:14
Published on: 26 April 2017
Case Report
The choice of therapeutic modality for oral carcinoma in recurrent or second primary tumors remains controversial, as the treatment modalities available might be reduced by the treatment of the first tumor, an...
Molecular Cytogenetics 2017 10:13
Published on: 11 April 2017
Methodology
Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb....
Molecular Cytogenetics 2017 10:12
Published on: 5 April 2017
Review
It has been known for more than 100 years that aneuploidy is an essence of cancer. The question is what keeps the genome stable, thereby preventing aneuploidy. For the past 25 years, it has been proposed that ...
Molecular Cytogenetics 2017 10:11
Published on: 4 April 2017
Research
Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the DMD gene. The aim of this study was to identify a de novo mutation of the DMD gene in the family of a ...
Molecular Cytogenetics 2017 10:8
Published on: 23 March 2017
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