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Inversion, Chromosome (0):
Recent article
Inversion, Chromosome
Abstract
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Abstract
Inversions are well-known structural chromosomal rearrangements in humans and pigs. Such rearrangements generally have no effect on the carriers' phenotype. However, the presence of an inversion can lead to spermatogenesis impairments and to the production of unbalanced (recombinant) gametes, respon...
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PMID: 19729915
PDF is available here.
PDF is available here.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (26)3 2009
Abstract
One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2.8% (7/247). Six women from family A and 2 from family B were diagnosed...
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PMID: 19504449
PDF is available here.
PDF is available here.
Chromosoma (118)3 2009
Abstract
We have characterized the breakpoint regions of inversion 5g, fixed in D. buzzatii and absent in Drosophila koepferae and other closely related species. A novel approach comprising four experimental steps was used. First, D. buzzatii BAC clones encompassing the breakpoints were identified and their...
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PMID: 19198866
PDF is available here.
PDF is available here.
Thrombosis and Haemostasis (101)4 2009
Abstract
Abstract
We report here on the cytogenetic characterization of the first inversion duplication deletion involving the short arm of chromosome 20 (inv dup del 20p) in an 18-month-old boy presenting with clinical signs consistent with 20p trisomy syndrome. This abnormality was suspected on karyotyping, but hig...
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PMID: 19206177
PDF is available here.
PDF is available here.
Abstract
We identified a paracentric inversion of chromosome 10 [inv(10)(q11.22q21.1)] in 0.20% of Swedish individuals (15/7,439) referred for cytogenetic analysis. A retrospective analysis of 8,896 karyotypes from amniocenteses in Sweden revealed a carrier frequency of 0.079% (7/8,896) for the inversion. Cl...
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PMID: 19213037
PDF is available here.
PDF is available here.
Cerebellum (8)1 2009
Abstract
We report a case of A-T with an atypically mild and slowly progressive disease course. Although by history there was mild gait clumsiness in early childhood, the leading problem was that of dystonia with onset at age 15, in the absence of gross gait imbalance or ocular motor apraxia. Dystonia was ge...
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PMID: 18846412
PDF is available here.
PDF is available here.
Abstract
We report on the first case analyzed using array-CGH in a female infant presenting psychomotor and growth retardation, facial anomalies, axial hypotonia, short neck, wide spaced nipples and cardiac defects. Conventional karyotype associated to FISH revealed a recombinant chromosome 4 with partial 4p...
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PMID: 19161154
PDF is available here.
PDF is available here.
Hereditas (Beijing) (31)2 2009
Abstract
To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lymphocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals ha...
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PMID: 19273421
PDF is available here.
PDF is available here.
Abstract
We present four cases with an inverted dup(1)(q32q21): three in B-cell precursor acute lymphoblastic leukemia (ALL) and one in MDS of the subtype refractory cytopenia with multilineage dysplasia and ringed sideroblasts. In all four cases, the aberration presented as the sole anomaly at diagnosis. In...
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PMID: 19100515
PDF is available here.
PDF is available here.
Abstract
We describe an unique case where both chromosomes 9 presented with an acquired pericentric inversion with breakpoints at 9p13 and 9q12 respectively, in a AML patient with aberrant CD7 and CD9 positivity. Additionally, one der(9) also showed short arm deletion at 9p21 to the centromeric region and in...
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PMID: 19193987
PDF is available here.
PDF is available here.
Haemophilia (15)1 2009
Abstract
A total of 107 unrelated severe haemophilia A patients living in the southern Brazilian state of Rio Grande do Sul were studied in relation to the prevalence of inversions present in introns 22 and 1 and a subsample of them (95) tested for the presence of Factor VIII inhibitors. These data were then...
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PMID: 18759747
PDF is available here.
PDF is available here.
Abstract
We report the first isolated cryptic proximal interstitial 3p deletion, del(3)(p12.3p13), assessed by array-based comparative genomic hybridization in a girl with an inversion of chromosome 7, whose phenotype includes neurodevelopmental delay, growth retardation, dysmorphic facial features, hypophys...
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PMID: 19864897
PDF is available here.
PDF is available here.
BMC Bioinformatics (10 Suppl 1)suppl 1 2009
Abstract
We describe a novel type of genomic signature based on rearrangements that characterizes evolutionary changes that must be common to all minimal rearrangement scenarios; by focusing on global patterns of rearrangements, such signatures bypass individual variations and sharply restrict the search spa...
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PMID: 19208174
PDF is available here.
PDF is available here.
Chromosome Research (17)1 2009
Abstract
We describe the peculiar centromere organization observed in In(2Rh)PL, a paracentric D. melanogaster inversion in which the centromere is maintained in its natural context but is directly flanked by a euchromatic domain as a result of the rearrangement. We have identified the breakpoints of the inv...
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PMID: 19105035
PDF is available here.
PDF is available here.
Klinische Paediatrie (221)3 2009
Abstract
Molecular analysis showed inversion of intron 22 as the result of a maternally inherited, distal, F8 gene inversion and chromosome analyses a 45,X karyotype indicative of Turner syndrome in our patient. Diagnosis was hampered by the female sex and the presence of neither a family history of bleeding...
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PMID: 19437365
PDF is available here.
PDF is available here.
Abstract
Abstract
We developed a novel mouse model system using the naturally occurring H-DNA structure that deviate from the familiar right-handed helical B form found at the breakage hotspot in the human c-MYC promoter and a Z-DNA-forming CG repeat to test this idea directly. Large-scale chromosomal deletions and/o...
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PMID: 19066276
PDF is available here.
PDF is available here.
Abstract
We report that W(sh) animals exhibit splenomegaly with expanded myeloid and megakaryocyte populations. Hematopoietic abnormalities extend to the bone marrow and are reflected by neutrophilia and thrombocytosis. In contrast, mast cell-deficient WBB6F1-Kit(W)/Kit(W-v) (W/W(v)) mice display mild neutro...
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PMID: 18988802
PDF is available here.
PDF is available here.
Abstract
The aim of this study was to describe the karyotype of species belonging to the subfamily Scarabaeinae (Coleoptera, Scarabaeidae) and to compile the conventional cytogenetic data available in the literature for this group. The karyotypes of ten species belonging to the tribes Canthonini, Coprini, On...
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PMID: 18495484
PDF is available here.
PDF is available here.
Abstract
Larval polytene chromosomes of 1824 individuals of Simulium siamense Takaoka and Suzuki from 32 locations in northern, northeastern, eastern, and central Thailand were examined. Differences in sex chromosomes, fixed inversions, and the kind and frequency of floating inversions revealed five cytoform...
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PMID: 19088811
PDF is available here.
PDF is available here.
Clinical Genetics (74)6 2008
Abstract
A familial q21.1q23.2-inversion on chromosome 14 that co-segregated with spherocytosis and learning difficulties or mild mental retardation was extensively investigated by bacterial artificial chromosome fluorescence in situ hybridization and array-comparative genomic hybridization. As expected, a d...
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PMID: 18717686
PDF is available here.
PDF is available here.
Human Molecular Genetics (17)22 2008
Abstract
We define an 11.5 Mb candidate interval for AS on chromosome 8q based on cytogenetic breakpoints in three patients. TRPS1, a gene within this interval, was deleted in a patient with an 8q23 chromosomal rearrangement, while its expression was significantly downregulated in another patient with an inv...
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PMID: 18713754
PDF is available here.
PDF is available here.
Abstract
This region of chromosome 17 has had a storied history, with changes in its DNA of import to human evolution and disease.
PDF is available here.
PDF is available here.
Abstract
Archives of Neurology (65)11 2008
Abstract
As expected, the markers are highly correlated and the association is seen across the entire region, which makes it difficult to narrow down a disease-causing variant or even a possible candidate gene. However, considering the pathologic abnormalities of these diseases and the involvement of tau mut...
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PMID: 19001166
PDF is available here.
PDF is available here.
Abstract
We have used fluorescent in situ hybridization to investigate this putative inversion. Analysis of interphase chromosomes in 12 individuals confirms the occurrence of an inversion and indicates that CHRFAM7A exists in both orientations with similar frequency. We showed that the 2 bp deletion polymor...
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PMID: 18545269
PDF is available here.
PDF is available here.
Zhonghua Yixue Zazhi (88)38 2008
Abstract
Two unrelated patients (pedigrees) were detected as inv1 positive with a positive rate of 1.26%. A rare female HA patient with inv1 was also discovered in a positive family (3 HA cases were found in this family and regarded as one case in calculating the total detection rate). The full length of FVI...
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PMID: 19080683
PDF is available here.
PDF is available here.
Abstract
Members of the Anopheles gambiae complex have remarkably distinct ecological adaptations, behaviors, and degrees of vectorial capacity. Inferring phylogenetic relationships in the complex is crucial for identifying the genomic changes associated with the origin and loss of epidemiologically importan...
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PMID: 18774905
PDF is available here.
PDF is available here.
Nature Genetics (40)9 2008
Abstract
We investigated the evolutionary history of the European-enriched 17q21.31 MAPT inversion polymorphism. We present a detailed, BAC-based sequence assembly of the inverted human H2 haplotype and compare it to the sequence structure and genetic variation of the corresponding 1.5-Mb region for the noni...
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PMID: 19165922
PDF is available here.
PDF is available here.
Abstract
Abstract
Genetic testing in hemophilia A continues to diversify. This article describes recent advances in several aspects of genetic analysis and its interpretation and reporting. The intron 1 and 22 inversions responsible for 50% of severe hemophilia A cases can be sought using long and inverse polymerase...
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PMID: 19085648
PDF is available here.
PDF is available here.
Pathologie Biologie (56)6 2008
Abstract
In man, the incidence of reproductive failures is high and chromosomal abnormalities remains the major cause of pregnancy wastage. The advent of molecular cytogenetic techniques and assisted reproduction technology have brought forth new approaches for the chromosomal analysis of human oocytes and s...
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PMID: 18534785
PDF is available here.
PDF is available here.
Abstract
We found TEL-AML1 = 16/63 (25.4%), E2A-PBX = 3/63 (4.8%), MLL-AF4 = 1/63 (1.6%), and BCR-ABL = 1/63 (1.6%). Four cases of AML1-ETO (20%) and one PML-RARA (5%) were found in ANLL samples. In conclusion, our simple multiplex RT-PCR for detection of fusion transcripts in childhood acute leukemia was fo...
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PMID: 18665825
PDF is available here.
PDF is available here.
Abstract
We report on a female patient with mosaic NMC involving 3q26.3-3qter, the content of which was determined using an array CGH analysis. Our results support the validity of an array CGH-based approach to investigating the origins of SMCs. Further FISH analyses revealed that the NMC is characterized by...
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PMID: 18561337
PDF is available here.
PDF is available here.
Abstract
We report here cytogenetic studies performed on a 4-year-old female patient with global developmental delay, hypotonia, and dysmorphic features. The initial cytogenetic evaluation by G-banding revealed a de novo inversion of chromosome 14. Subsequent array CGH analysis using both a targeted BAC arra...
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PMID: 18627051
PDF is available here.
PDF is available here.
Nucleic Acids Research (36)13 2008
Abstract
We illustrate the versatility of the method both by genotyping a Yp paracentric inversion, found in approximately 60% of Northwest European males, that strongly influences the germline rate of infertility-causing XY translocations and by haplotyping two autosomal SNPs that lie 16.4 kb apart on chrom...
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PMID: 18562465
PDF is available here.
PDF is available here.
Human Mutation (29)8 2008
Abstract
We report mutations at the GDF6 gene locus in familial and sporadic cases of KFS including the recurrent missense mutation of an extremely conserved residue c.866T>C (p.Leu289Pro) in association with mirror movements and an inversion breakpoint downstream of the gene in association with carpal, tars...
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PMID: 18425797
PDF is available here.
PDF is available here.
Abstract
Chromosomal inversion polymorphism affects nucleotide variation at loci associated with inversions. In Drosophila subobscura, a species with a rich chromosomal inversion polymorphism and the largest recombinational map so far reported in the Drosophila genus, extensive genetic structure of nucleotid...
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PMID: 18436552
PDF is available here.
PDF is available here.
Seminars in Oncology (35)4 2008
Abstract
Core binding factor (CBF) acute myeloid leukemia (AML) is cytogenetically defined by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22), which are found in approximately 15% of all adult de novo AML cases. At the molecular level, both cytogenetic abnormalities result in disruption...
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PMID: 18692691
PDF is available here.
PDF is available here.
Abstract
We report that the threespine stickleback Y chromosome is heteromorphic and has suffered both inversions and deletion. Using the FISH data, we reconstruct the rearrangements that have led to the current physical state of the threespine stickleback Y chromosome. These data demonstrate that the threes...
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PMID: 18689886
PDF is available here.
PDF is available here.
Abstract
We report a novel three-way translocation involving inversion 16 and chromosome 12 at bands 16p13, 16q22, and 12q24 in a patient with therapy-related acute myeloid leukemia (AML)-M4eo. Conventional G-banding of bone marrow cells at diagnosis was suggestive of inv(16)(p13q22) and a translocation of c...
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PMID: 18617061
PDF is available here.
PDF is available here.
Abstract
Abstract
We studied 16 patients with severe hemophilia A (factor VIII and factor VIII:Ag <1%) with intron 22 inversions of the factor VIII gene and 6 patients with hemophilia B, 2 each having a common mutation, for the common prothrombotic markers in the anticoagulant and fibrinolytic cascade. Of the patient...
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PMID: 18550475
PDF is available here.
PDF is available here.
JNCI Monographs (2008)39 2008
Abstract
Acquired genetic alterations such as balanced and unbalanced chromosome aberrations and submicroscopic gene mutations and changes in gene expression strongly affect pretreatment features and prognosis of adults with acute myeloid leukemia (AML). The most frequent chromosome/molecular rearrangements,...
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PMID: 18648004
PDF is available here.
PDF is available here.
Journal of Clinical Oncology (26)19 2008
Abstract
In patients with inv16, after allogeneic and autologous transplantation, the 5-year leukemia-free survival (LFS) rates were 59% and 66% (P = .5), the relapse incidence (RI) rates were 27% and 32% (P = .45), and the transplantation-related mortality (TRM) rates were 14% and 2% (P = .003), respectivel...
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PMID: 18506024
PDF is available here.
PDF is available here.
Saudi medical journal (29)7 2008
Abstract
We found the incidence of inv9 to be 1.01%. From a review of 157 cases with inv9, it is concluded that the incidence of the spontaneous abortion group 30.6% appeared to be high among the adult patients with inv9. The 17 cases were found to have mental retardation, which gave an incidence of 10.8%. W...
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PMID: 18626518
PDF is available here.
PDF is available here.
Human Genetics (123)6 2008
Abstract
We have ascertained 257 autosomal inversion probands at the Wessex Regional Genetics Laboratory. There were 104 apparently recurrent inversions, representing 35 different breakpoint combinations and we speculated that at least some of these had arisen on more than one occasion. However, haplotype an...
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PMID: 18470537
PDF is available here.
PDF is available here.
Haematologica (93)7 2008
Abstract
Our aim was to establish the mutation of each patient to improve family management. A total of 116 unrelated families with severe and moderate hemophilia A were involved. Non-carriers of intron 22 and intron 1 rearrangements were included in F8 gene screening. Intron 1 and 22 inversion frequencies w...
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PMID: 18403393
PDF is available here.
PDF is available here.
Abstract
We performed experiments in the laboratory to test for the joint effects of temperature and chromosome inversions on size and shape of the wing in D. mediopunctata. Size was measured as the centroid size, and shape was analyzed using the generalized least squares Procrustes superimposition followed...
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PMID: 17952608
PDF is available here.
PDF is available here.
Abstract
We develop a new test to detect viability selection over a single generation. In this test, one specific type of chromosomes is chosen as a reference, while all other chromosomes are designated as "focal". The test compares measures of variation between two groups of "focal" chromosomes: those found...
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PMID: 17965838
PDF is available here.
PDF is available here.
Abstract
We find it to approximate a linear process over time (linear to exponential with alternate divergence time estimates). We find the distribution of synteny segment sizes to be biased by a large number of small segments with comparatively fewer large segments. Our results provide estimated chromosomal...
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PMID: 18622036
PDF is available here.
PDF is available here.
Animal Genetics (39)3 2008
Abstract
We obtained genotypes for the intron 13 SNP and the chromosomal inversion for 204 tobiano spotted horses and 24 control animals of several breeds. The genotyping data confirmed that the chromosomal inversion was perfectly associated with the To allele in all investigated horses. Therefore, the new t...
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PMID: 18410476
PDF is available here.
PDF is available here.
Abstract
Journal of Cell Science (121)Pt 11 2008
Abstract
We determined the three-dimensional (3D) nuclear arrangement of 33 very-early-replicating and 31 very-late-replicating loci. We analyzed diploid human, non-human primate and rearranged tumor cells by 3D fluorescence in situ hybridization with the aim of investigating the impact of chromosomal struct...
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PMID: 18477608
PDF is available here.
PDF is available here.
Leukemia Research (32)6 2008
Abstract
We performed gene expression studies in samples from (8;21), AML1 mutated and inv(16) patients, as well as from the Kasumi-1 cell line and a U937 cell line expressing the AML1-ETO fusion gene. To assess the influence of associated epigenetic lesions, we performed gene expression studies in Kasumi-1...
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PMID: 18206229
PDF is available here.
PDF is available here.
Fertility and Sterility (89)6 2008
Abstract
Our results show that the rate of recombination varies principally according to the size of the inverted segment....
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PMID: 17603050
PDF is available here.
PDF is available here.
Abstract
We report on a unique and complex 8p rearrangement with seizures as the major presenting feature in the patient. Extensive fluorescence in situ hybridization and microarray analyses with tiling path 8p array showed that the rearrangement is unique in that the 8p duplication is a direct tandem duplic...
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PMID: 18302246
PDF is available here.
PDF is available here.
Abstract
We report on a 6-year-old boy referred for cytogenetics study. A few non-specific features were observed in the newborn: hypotonia, failure to thrive, seizures, pre-auricular skin tags. Cat-like cry was not identified. No remarkable facial dysmorphism, gastrointestinal, respiratory or cardiac abnorm...
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PMID: 18266247
PDF is available here.
PDF is available here.