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Results for “Chromosome Inversion”

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At least 253 records · Page 14Linked to original sources
PubMed1993

Familial pericentric inversion of chromosome 13, 46,XX,inv (13)(p13;q11): a new variant.

A 10-year-old female with right oblique inguinal hernia was investigated to exclude an XY karyotype. Chromosome analysis of peripheral blood showed 46,XX,inv(13)(p13;q11). In vitro aneuploidy was observed in two cells: a) 46,XX,inv(13), inv(13); b) 47,XX, +inv(13). Her father and three sisters were carriers for inv(13). Herein the authors review briefly familial inv(13)'s and report a new variant involving breakpoints (p13;q11).

Child↗
PubMed1997

Inversion of chromosome 11 inv(11)(p15q22), as a recurring chromosomal aberration associated with de novo and secondary myeloid malignancies: identification of a P1 clone spanning the 11q22 breakpoint.

We studied four patients with inv(11)(p15q22) associated with malignant myeloid diseases by using fluorescence in situ hybridization (FISH) with phage and cosmid probes mapped and ordered on 11q22-24. Two of the four patients had non-Hodgkin's lymphoma or acute lymphoblastic leukemia as the primary malignancy and had received cytotoxic chemotherapy, including topoisomerase II inhibitors. The other two had de novo acute myeloid leukemia or myelodysplastic syndrome. FISH analysis showed that all 11q breakpoints were located centromeric to the MLL gene and between cosmids CN2900 and CN1323. We identified a yeast artificial chromosome (YAC) clone that spanned the inv(11) breakpoints on 11q. From this YAC, we identified a P1 clone, which included the breakpoints in at least three of the four patients. It is highly likely that the same gene on the P1 clone is rearranged in leukemic cells of each patient. This gene may be one of the targets for topoisomerase II inhibitors.

Adolescent↗
PubMed1979

Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome.

A 31-year-old woman of short stature with severe oligomenorrhea was found to carry a duplication-deficiency X chromosome, 46,X,rec(X)dup q,inv(X)(p22q11), inherited from her mother who carried a pericentric inversion X chromosome, 46,X,inv(X)(p22q11). By a combination of autoradiography and BUdR incorporation, the duplication-deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.

Adult↗
PubMed1990

Rapid detection of chromosome 16 inversion in acute nonlymphocytic leukemia, subtype M4: regional localization of the breakpoint in 16p.

The pericentric inversion of chromosome 16 characteristic for acute nonlymphocytic leukemia, subtype M4, was detected in five patients by means of nonradioactive in situ hybridization of complete cosmids. First, five cosmids situated along the short arm of chromosome 16 were used to map the breakpoint of the inversion distal to the rare folate-sensitive fragile site FRA16A. Then, the use of two cosmids on either side of the breakpoint, combined with a probe specific for the centromeric region of chromosome 16, readily detected the inversion, even in poor metaphase spreads.

Chromosome Inversion↗
PubMed2003

The evolutionary history of Drosophila buzzatii. XXXV. Inversion polymorphism and nucleotide variability in different regions of the second chromosome.

Inversions are portions of a chromosome where the gene order is reversed relative to a standard reference orientation. Because of reduced levels of recombination in heterokaryotypes, inversions have a potentially important effect on patterns of nucleotide variability in those genomic regions close to, or included in, the inverted fragments. Here we report sequence variation at three anonymous regions (STSs) located at different positions in relation to second-chromosome inversion breakpoints in 29 isochromosomal lines derived from an Argentinean population of Drosophila buzzatii. In agreement with previous findings in Drosophila, gene flux (crossing over and/or gene conversion) between arrangements seems to appreciably increase as we approach the middle sections of inversion 2j, and patterns of nucleotide variability within, as well as genetic differentiation between chromosome arrangements, are comparable to those observed at the molecular marker outside the inverted fragments. On the other hand, nucleotide diversity near the proximal breakpoint of inversion 2j is reduced when contrasted with that found at the other regions, particularly in the case of derived inverted chromosomes. Using the data from the breakpoint, we estimate that the inversion polymorphism is approximately 1.63 N generations old, where N is the effective population size. An excess of low-frequency segregating polymorphisms is detected; mostly in the ancestral 2st arrangement and probably indicating a population expansion that predates the coalescent time of inversion 2j. Heterogeneity in mutation rates between the markers linked to the inversions may be sufficient to explain the different levels of nucleotide diversity observed. When considered in the context of other studies on patterns of variation relative to physical distance to inversion breakpoints, our data appear to be consistent with the conclusion that inversions are unlikely to be "long-lived" balanced polymorphisms.

Animals↗
PubMed1980

Prenatal detection of pericentric inversion of chromosome 12.

A pericentric inversion of chromosome 12 was detected in an unborn baby by a second-trimester amniocentesis for prenatal diagnosis because of advanced maternal age. Subsequently, the identical pericentric inversion was found in the phenotypically normal father and a sibling. In this case of familial pericentric inversion, the parents were assured that their unborn baby was anticipated to be normal. The importance of banding studies for precise identification of structurally abnormal chromosomes and the need for chromosome study of family members for the peroper counseling of prenatal diagnosis of such a variant chromosome are discussed.

Adult↗
PubMed1994

A family with pericentric inversion of chromosome 12.

A heterozygous pericentric inversion of chromosome 12 (inv(12)) was prenatally diagnosed. The breakpoints were localized to p12.3 and q14, resulting in more than one-third of the total length of the chromosome being inverted. The inversions was transmitted from the father whose phenotype was completely normal. The newborn also showed normal phenotype and grew without any clinical problems. The parents had no history of infertility. Based on these facts, it is indicated that pericentric inv(12)(p12.3q14) does not affect phenotype.

Adult↗
PubMed1987

Karyotypic evolution in acute myelomonocytic leukemia with pericentric inversion of chromosome 16.

A 37-year-old Japanese male patient with acute myelomonocytic leukemia subtype M4 (according to FAB classification) associated with bone marrow eosinophilia and specific chromosome abnormalities: a pericentric inversion of chromosome 16, inv(16)(p13q22); a long arm deletion of chromosome #7, del(7)(q22q34); and a gain of chromosomes #8 and #22 is reported. In addition to the modal karyotype, 47,XY,7q-,inv(16),+22, there were three other clones whose karyotypes were 46,XY,inv(16); 47,XY,inv(16),+22; and 48,XY,+8,inv(16),+22. As these karyotypes were related to each other, the presence of multiple clones indicated that karyotypic evolution had occurred. The karyotypic evolution associated with 7q- has not been reported previously in patients with M4Eo with inv(16).

Adult↗