Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “CHROMOSOME ABNORMALITIES”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,585 records · Page 88Linked to original sources
PubMed1992

Sex chromosome abnormalities in natural populations of the common vole (Microtus arvalis).

Four specimens with an aberrant sex chromosome constitution were found in natural populations of the common vole (Microtus arvalis). Two females had an X0 sex chromosome constitution and single males were 2n = 47, XXY and 2n = 47, XYY, respectively. No apparent phenotypical anomalies were recorded in the sex chromosome aneuploids, but their fertility may have been impaired. The incidence of sex chromosome aneuploidy seems to be unusually high in natural populations of the common vole (1.5% of animals examined). Possible explanations for this are discussed.

Animals↗
PubMed1990

[Cytogenetic analysis of chorionic biopsy samples in prenatal diagnosis of chromosome abnormalities].

Using original direct methods of shaking-imprinting and rapid sampling of metaphase and prometaphase chromosomes, a cytogenetic analysis has been performed in 80 diagnostic chorionic villus samples (CVS) in the first trimester. Chromosomal disorders were identified in 6 (7.5%) fetuses: Down's syndrome in 4, monosomy 18 in 1, and a short-arm deletion of chromosome 18 in 1. These pregnancies were terminated. The paper offers opportunities for reducing risks of transcervical CVS and widely applying first-trimester chromosomal analysis in a program of mass screening for chromosomal and genetic diseases.

Adult↗
PubMed1982

Significance of chromosome abnormalities in leukemia.

The review deals with technical considerations in relation to culturing and studying the chromosomes of leukemic cells. Specific and non-random chromosomal changes are described by the historic approach. Then follows a description of the application of chromosomal studies to diagnosis, progress and followup in the chronic and acute leukemias. A section is devoted to the application of chromosomal studies in bone-marrow transplantation. Finally, lines of research for leukemia using a genetic approach are suggested.

Bone Marrow Transplantation↗
PubMedDate not supplied

[Prenatal diagnosis of chromosome abnormalities. Three years of experience].

Six hundred and eighty one diagnoses were established by means of cell culture and chromosome analysis on amniotic fluid obtained either by late amniocentesis or at the time of therapeutic abortion. Each prenatal diagnosis involved: 1. Genetic consultation. 2. Supervision of the pregnancy before amniocentesis. 3. Amniocentesis in the obstetric department. 4. Confirmation of the diagnosis when an abnormality of the foetus was discolvered. 5. Supervision of the pregnancy following the anmiocentesis and examination of the infant at birth and during the first year of life. The indications for chromosome studies and the results are discussed.

Adult↗
PubMed1984

"Masked" Ph1 chromosome abnormalities in CML: a report of two unique cases.

Two patients with chronic myeloid leukemia (CML) showed previously undescribed variants of a "masked" Ph1 abnormality. The first patient had the karyotype 46,XY, + 21, -9, -22, +mar9,mar18 at presentation in the chronic phase. The dicentric marker 9 was interpreted as representing the usual translocation of 22q11 to 9q34, followed by translocation of the Ph1 chromosome (the deleted 22) to 9p and probable translocation of 9p to the distal long arm of the marker. The patient developed clones containing 2 and 3 copies of the "Ph1-containing" marker 9 concomitant with the metamorphosis of his disease to a more aggressive phase. The second case presented with the karyotype 46,XY,-9,-22,+two D-group markers. A complex rearrangement of chromosomes 9 and 22 is postulated, with interstitial insertion of either 9p or distal 9q into chromosome 22q11. This patient is still in the chronic phase of his disease 9 mo after presentation. The common denominator in these unusual "masked" cases is the 22q11 breakpoint. The paucity of published reports of duplication of 9q + without concurrent duplication of the Ph1 chromosome, supported by the findings in our first case, leads us to conclude that the amplification of genes on the Ph1 chromosome are more important for the evolution of the abnormal stem cell in CML than the chromosome 9 derivative.

Adult↗
PubMed2001

Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia.

In acute myeloid leukemia (AML) close associations are known between cytomorphology and cytogenetics such as in AML M3/M3v showing a t(15;17) and in AML M4eo associated with inv(16)/t(16;16). In AML M5 a heterogenous cytogenetic pattern is observed. We describe the gain of an isochromosome of the short arm of chromosome 5 together with the gain of chromosome 8 as the sole abnormalities in two cases of acute monoblastic leukemia. In a third case of acute monoblastic leukemia we also observed the gain of an isochromosome 5p together with trisomy 8. This patient showed in addition an unbalanced translocation between the long arm of chromosome 1 and the short arm of chromosome 14 leading to a trisomy 1q. So far only two cases of AML with i(5)(p10) have been published. In no other hematological malignancy has an isochromosome 5p been reported up to now. As an isochromosome 5p can be misinterpreted as a deletion 5q, which occurs frequently in AML, fluorescence in situ hybridization with loci specific probes is a helpful method to detect this rare abnormality.

Adult↗
PubMed1988

Chromosome abnormalities in leiomyosarcomas.

Short-term cultures from seven soft tissue leiomyosarcomas were investigated cytogenetically. Sufficient mitoses for chromosome analysis were obtained in six cases, four of which had only normal karyotypes. In one tumor, an intramuscular leiomyosarcoma of the lower arm, a variety of nonclonal structural and numerical aberrations were found in two thirds of the metaphases. Another tumor, a subcutaneous leiomyosarcoma of the knee, had clonal abnormalities resulting in the karyotype 46,X,der(X)t(X;4)(:Xq26----cen----Xp22::4q23----4qter) , del(4)(q23)/47,X,der(X)t(X;4),del(4)(q23), + 20. Flow cytofluorometric measurements of the DNA content in the six leiomyosarcomas successfully karyotyped revealed diploid values in five tumors. The leiomyosarcoma displaying numerous nonclonal changes had two cytofluorometric peaks, 1.01 and 1.39, indicating that the metaphases available for cytogenetic study cannot have been fully representative of the tumor stemline.

Adult↗
PubMed1971

Two populations of Rh groups together with chromosomally abnormal cell lines in the bone marrow.

At the onset of his disease a man with polycythaemia vera had chromosomally normal cells in the bone marrow and Rh blood group CDe/cDE. Five years later he developed pancytopenia with erythroid hyperplasia of the bone marrow. This was associated with the presence of a major abnormal clone, 45,XY,B-,C-,16+, a minor clone, 45,XY,2+,3-,C-, and a few apparently normal cells. At the same time Rh blood grouping showed two populations of red cells, one CDe/cDE and one giving the reactions of CDe/CDe which can be interpreted as CDe. If monosomic CDe be the correct interpretation the case provides a strong hint that the Rh complex locus is sited either on the long arm of a B-group chromosome or, less probably, on an autosome of the C group.

Anemia, Aplastic↗
PubMed1988

[Balanced chromosome abnormalities with abnormal phenotype].

In this report we summarized our experience (1970-1986) on autosomal reciprocal translocations with particular interest towards the possible excess of mental retardation and congenital malformations in carriers of apparently balanced chromosomal rearrangements. The present data confirm the previous findings that the association of MR/MCA and apparently balanced autosomal chromosomal rearrangements is much higher than expected by chance.

Chromosome Aberrations↗
PubMed1988

Cytogenetic findings in leukemic cells of 56 patients with constitutional chromosome abnormalities. A cooperative study. Groupe Français de Cytogénétique Hématologique.

Fifty-six patients with a major constitutional chromosome anomaly and a malignant hematologic disorder in whom the chromosomes of the malignant cells were analyzed by banding techniques are reported from a cooperative and retrospective study. The patients included 25 with trisomy 21, nine with a sex chromosome anomaly, and 22 with a structural rearrangement. For Down's syndrome patients, the morphologic and cytogenetic aspects of acute leukemia were studied because it has been postulated that there could be a specific pattern of acute leukemia in Down's syndrome patients. For other chromosome rearrangements detailed karyotypic changes are reported, but the question of whether these patients are at greater risk of hematologic malignancy remains unanswered.

Acute Disease↗
PubMed1990

Structural chromosomal abnormalities in gynecologic malignancies.

Surgical specimens taken from four patients with gynecologic malignancies were cultured, and metaphase chromosomes were prepared after staining with chromamycin-A, distamycin, and DAPI. Four specially selected karyotypes and their structural aberrations are discussed in this study and compared with those (also from carcinomas) previously described in the literature.

Adenocarcinoma↗
PubMed1999

Characterization of chromosomal abnormalities in prostate cancer cell lines by spectral karyotyping.

Human prostate cancer is characterized by multiple gross chromosome alterations involving several chromosome regions. However, the specific genes involved in the development of prostate tumors are still largely unknown. Here we have studied the chromosome composition of the three established prostate cancer cell lines, LNCaP, PC-3, and DU145, by spectral karyotyping (SKY). SKY analysis showed complex karyotypes for all three cell lines, with 87, 58/113, and 62 chromosomes, respectively. All cell lines were shown to carry structural alterations of chromosomes 1, 2, 4, 6, 10, 15, and 16; however, no recurrent breakpoints were detected. Compared to previously published findings on these cell lines using comparative genomic hybridization, SKY revealed several balanced translocations and pinpointed rearrangement breakpoints. The SKY analysis was validated by fluorescence in situ hybridization using chromosome-specific, as well as locus-specific, probes. Identification of chromosome alterations in these cell lines by SKY may prove to be helpful in attempts to clone the genes involved in prostate cancer tumorigenesis.

Aneuploidy↗
PubMed1991

Structural alterations of the c-mos locus in benign pleomorphic adenomas with chromosome abnormalities of 8q12.

Recent mapping studies have assigned the human c-mos proto-oncogene to chromosome 8, bands q11-12. This region is frequently affected by chromosomal translocations in benign pleomorphic adenomas of the salivary glands. Using Southern blot analysis we report here that the c-mos gene and its flanking sequences are structurally altered in pleomorphic adenomas with chromosomal rearrangements of 8q12. Rearrangements were detected in two out of 23 tumors. Restriction fragment analysis indicated that the rearrangements were due to multiple, subtle mutations involving the c-mos open reading frame and its flanking sequences. There was no direct evidence of translocation of mos in any of the tumors. Control DNAs from the two patients showed a normal restriction pattern for all enzymes tested, indicating that the rearrangements are tumor specific. Collectively, our cytogenetic and molecular data suggest involvement of the c-mos gene in the pathogenesis of pleomorphic adenomas.

Adenoma↗