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At least 19 recordsLinked to original sources
PubMed1996

Detection of chromosomal abnormalities of chromosome 12 in uterine leiomyoma using fluorescence in situ hybridization.

Fifty uterine leiomyomas were examined using conventional cytogenetic method and fluorescence in situ hybridization (FISH) for detection of chromosomal abnormalities of chromosome 12. Of the 50 tumors, nine were examined using FISH on the non-cultured samples. Two (4.0%) of 50 tumor samples examined showed chromosomal abnormalities of chromosome 12 by the conventional cytogenetic analysis. For FISH, the whole-chromosome painting probe and D12Z3 probe specific for the centromeric region were used. Of the 50 cultured samples, 10 showed structural aberrations and four showed numerical aberrations of chromosome 12 by FISH analysis. Of the nine non-cultured samples, four showed structural abnormalities of chromosome 12, all of which also showed structural abnormalities of chromosome 12 on the cultured samples. These results indicate that chromosomal abnormalities of chromosome 12 are important in the biology of at least some types of uterine leiomyoma, and that FISH is a useful complement to the conventional cytogenetic analysis in the study of solid tumors.

Chromosome Aberrations↗
PubMed1993

Chromosome abnormalities.

Chromosome abnormalities have been described in food animals since 1964. Some are self-limiting because they cause sterility or other developmental defects incompatible with normal growth and development, making them unacceptable for production systems. Others, however, cause no discernible phenotypic abnormalities but, in breeding animals, result in increased levels of embryonic mortality and reduced litter size. Although the extent of loss of reproductive efficiency is not entirely understood at this time, care must be exercised in recommending animals carrying a chromosome abnormality to be used as breeding stock. This is of particular concern if animals are to be used extensively in artificial insemination programs.

Animals↗
PubMed1987

The potential of family flow karyotyping for the detection of chromosome abnormalities.

Chromosomes from the mother, father, and child of nine families were stained with ethidium bromide and analysed in flow. These flow karyotypes on average resolved separately the homologues of 4.8 of the offspring's chromosomes. A homologue's relative DNA content (calculated from the flow karyotype) was found to be an accurate marker which could be used to trace that chromosome in a family. In this way the parental origin of 74.4% of the offspring's resolved homologues was determined. In the karyotypically normal families studied no chromosome was found in a child which was clearly different from a homologue present in one of the parents. Using parental flow karyotypes to identify familial heteromorphisms, a number of dysmorphic children were studied in an attempt to detect small "de novo" abnormalities. Although no chromosome abnormality was detected in these cases, the usefulness of family studies was illustrated. In one family a large chromosome 4 homologue was found in the child and this was shown to be similar to one found in the father, suggesting an inherited heteromorphism rather than a clinically significant duplication. Flow analysis of the parents of a patient diagnosed cytogenetically as having an interstitial deletion of the X chromosome revealed the abnormality to be a "de novo" 3;X translocation. It is suggested that flow karyotype analysis in families has potential for the detection of chromosome rearrangements at the limits of resolution of conventional cytogenetics.

Chromosome Aberrations↗
PubMed1990

Abnormal chromosomal arrangements in human oocytes.

Ninety-one human oocytes, lacking signs of fertilization 50 h after insemination in vitro, were investigated cytogenetically to assess the frequency and type of chromosomal abnormalities. Chromosome spreading permitted adequate karyotyping in 55 oocytes. Non-determined numerical aberrations occurred with the following frequencies: hypohaploidy, 10.9% (6/55), hyperhaploidy, 14.5% (8/55) and hyperdiploidy, 3.6% (2/55). Total aneuploidy occurred with a frequency of 29.1% and was observed in oocytes from 30 patients. No correlation was found between specific chromosomal aberrations and type of infertility, stimulation treatment or gonadotrophin levels. On the other hand, the frequency of aneuploidy was significantly higher (P less than 0.05) in patients greater than 35 years of age. Two chromosomal complements (3.6%) had structural rearrangements; one oocyte had both structural and numerical chromosomal abnormalities and the other had differently condensed regions on the long arms of three chromosomes from group C. The overall frequency of chromosomal aberrations was 32.7%. Only two samples contained an additional set of polar body chromosomes. Thirteen oocytes presented sperm chromosomes in an arrested stage of premature chromosome condensation of the G1 phase and four oocytes showed asynchronous condensation of pronuclear chromosomes. Finally, it was concluded that the high proportion of chromosomal aberrations observed in human oocytes may contribute significantly to abnormal embryonic development in vitro.

Adult↗
PubMed1985

Nonendemic Burkitt's lymphoma with complex chromosome abnormalities involving chromosomes 2 and 8.

A long surviving patient with nonendemic Burkitt's lymphoma and complex cytogenetic findings is presented. Chromosome abnormalities were seen as a minor clone in peripheral blood and were considered consistent with the t(2;8)(p12;q24) variant. The karyotype was 47,XY, -2, -8, + der2(8qter-8q24::2p12-2qter), + der8(8pter-8q23::2p12-2pter) + der8(8qter-8cen::1q21-1qter). This case illustrates the value of extensive chromosome analysis in hematologic disorders and, at the time of writing, is the first example in Britain of the t(2;8) variant in Burkitt's lymphoma.

Adult↗
PubMed1997

A novel chromosomal abnormality involving chromosomes 2 and 18 in a patient with myelodysplastic syndrome.

Cytogenetic analysis of bone marrow cells from a patient with myelodysplastic syndrome associated with eosinophilia showed a complex translocation with a 46,XY,t(2;18;2)(p23;q11;q32) karyotype. The patient has refractory anemia (RA) according to the French-American-British Cooperative Group (FAB) classification, and after 90 months of follow-up he shows no evidence of leukemic transformation. This chromosomal abnormality has not been previously described in myelodysplastic syndromes and may be associated with good prognosis as the patient has been stable for a long time.

Adult↗
PubMed1992

[Doppler ultrasound of the umbilical artery in fetuses with sonographically abnormal findings and/or chromosome abnormalities (corrected)].

We performed 77 Doppler blood flow studies of the umbilical artery in 45 foetuses with malformations and/or chromosomal abnormalities. 20 foetuses had chromosomal abnormalities and 34 records of the second and third trimester were analysed. In 25 foetuses with malformations, but without chromosomal abnormalities, 43 investigations were performed between 21st and 40th weeks of gestation. In the second trimester, 3 of 11 foetuses with chromosomal abnormalities had an absence of enddiastolic flow velocities, whereas the other foetuses had pulsatility indices within the range for foetuses with a normal karyotype. In the third trimester, 7 of 10 foetuses with chromosomal abnormalities had pathological Doppler findings. Four cases had absent or reversed enddiastolic (ARED) flow velocities. Altogether 10 of 13 foetuses beyond the 19th weeks of gestation had pathological Doppler findings (sensitivity = 77%). The structure and the function of the placenta is influenced by the abnormal karyotype, which is demonstrated by pathological Doppler findings. Only 3 of 43 investigations in foetuses with malformations but normal karyotype, showed abnormal PI values and there was no case of ARED flow. In a group of 24 foetuses with ARED flow, 6 foetuses had chromosomal abnormalities. All foetuses with malformations and ARED flow had an abnormal karyotype. Prenatal chromosome analyses of foetuses with suspicious sonographic findings, revealed a rate of 29% chromosomal abnormalities, nearly all of them with a maternal age under 35 years. Whereas Doppler sonography cannot exclude chromosomal abnormalities before the 20th weeks of gestation, there is a good correlation between chromosomal abnormalities and abnormal Doppler findings later on.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Flow Velocity↗
PubMed1997

A subset of gestational trophoblastic disease characterized by abnormal chromosome 8 copy number detected by fluorescence in situ hybridization.

The present paper describes the results of research conducted to ascertain whether the report by Mark et al. [1], describing the concurrence of congenital trisomy 8 mosaicism and gestational trophoblastic disease (GTD) in a 42 year-old Gravida IV, Para IV patient was an isolated event. In contrast to other cases described in the literature, the patient described in Mark et al. [1] had no additional confounding chromosomal abnormalities other than trisomy 8. To the best of our knowledge, ours was the only reported case of constitutional trisomy 8 mosaicism associated with gestational trophoblastic disease, a rare gynecological disease entity. The question arises whether there exists a subset of patients with GTD characterized by an abnormal chromosome 8 copy number. The implicit hypothesis is that an abnormal number of chromosome 8 somehow predisposes to cancer. A pilot study of 10 cases of GTD was conducted using fluorescence in situ hybridization (FISH) and a commercial chromosome 8-specific alpha-satellite probe on formalin-fixed, paraffin-embedded patient tissues. Among eight informative cases successfully completed, two cases (25%) were found to be trisomic, when a cut-off point of 10% trisomic cells is adopted. Another two cases (25%) were found to be triploid. The results of our FISH study indicated that an abnormal chromosome 8 copy number found in Mark et al. [1] is unlikely to be an isolated event. Our data are consistent with the hypothesis that a subset of GTD indeed may exist which is characterized by more than two copies of chromosome 8. The present findings corroborate those recently found in breast, prostate, and other cancers.

Adult↗
PubMed1985

Abnormal chromosome behavior in human oocytes which remained unfertilized during human in vitro fertilization.

Chromosomal abnormalities and abnormal embryonic development have previously been observed after human in vitro fertilization (IVF). Chromosomal abnormalities may arise not only after fertilization but even earlier during meiotic maturation of human oocytes in culture. Since chromosomal analysis is simple in oocytes during meiotic maturation, the chromosomal status was analyzed in oocytes which remained unfertilized in a human in vitro fertilization program. In 50 fertilization attempts the chromosomes of 62 unfertilized oocytes could be analyzed; 45 of them were in the process of meiotic maturation. In three oocytes two small polar bodies were observed 16-18 hr after insemination in the absence of fertilization. In one oocyte abnormal chromosome behavior was found during the first meiotic division, and in four oocytes during metaphase of the second meiotic division. These data suggest that chromosomal analysis of unfertilized oocytes in human IVF may improve the understanding human oocyte maturation and fertilization.

Chromosome Aberrations↗
PubMed1988

Nonrandom chromosomal abnormalities in acute lymphoblastic leukemia of childhood.

The leukemic cell karyotype was studied in 103 children with acute lymphoblastic leukemia. An abnormal chromosome pattern was revealed in 81 of 98 patients studied before treatment (82.6%) and in the five children studied in relapse. Aside from specific chromosomal abnormalities defined by the Third International Workshop on Chromosomes in Leukemia, other nonrandom rearrangements were observed, particularly del(14)(q11-13), del(12)(p11-12), and t(1;19)(q22-23;p13), often associated with partial trisomy for 1q. Patients with del(14) had tumorous lymph-nodes or other extramedullary tumors. The course of the disease in these children was rapid. Patients with markers such as Ph, 6q-,14q+, and with a t(4;11) had a low incidence of complete remission and short survival. The most favorable course of the disease was observed in the group of children with over 50 chromosomes in the leukemic cells.

Adolescent↗
PubMed1984

Abnormal chromosome in Prader-Willi syndrome.

A Prader-Willi Syndrome (PWS) patient was found to have an extra satellite chromosome, smaller than the normal Chromosome 22, in 60% of her metaphases. G- and C-bandings showed that the extra chromosome did not derive from a Chromosome 15 as has been reported in some PWS patients. Because of variation in chromosomal abnormalities in the PWS patients reported, it was concluded that the chromosomal abnormalities found in them may be a secondary phenomenon rather than the cause of PWS.

Adult↗
PubMed1996

Faconi anemia and bone marrow clonal chromosome abnormalities.

Clonal chromosome abnormalities were detected in bone marrow cells of 20 patients with Fanconi anemia investigated at various stages of the disease. Two presented with acute leukemia, six with myelodysplastic syndrome, and 12 had minor or no morphological abnormalities of hematopoietic cells. Abnormalities of chromosome 7 were detected in nine patients (monosomy, isochromosome, or other structural rearrangement), and chromosome 1 was rearranged in four. The types and the significance of clonal chromosome abnormalities which may be present without apparent evolution toward acute leukemia or myelodysplastic syndrome in Fanconi anemia patients are discussed.

Adolescent↗
PubMedDate not supplied

Abnormal chromosomes in histocytic lymphoma.

Five of six diffuse histocytic lymphoma patients had chromosomal abnormalities. Four had abnormal clones; three, a large acrocentric chromosome (LAC); and one, an abnormal large submetacentric chromosome (LSC). The LAC was a 14q+ and the LSC, a 4q+. Although no cytogenetic abnormality was found in a normal lymph node of a patient whose diseased lymph node had an LAC, abnormal chromosomes were seen in three patients with normal morphological bone marrow and in two peripheral blood specimens with a normal differential count. Since staging is important in aiding the clinician to select the type of treatment in this disease, it is recommended that cytogenetic studies in all biopsied tissues should be done as part of an overall diagnostic procedure in patients suspected of this disease.

Aged↗
PubMed1987

Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions.

Cytogenetic analysis was performed directly on villus material from 202 samples obtained at the evacuation of the uterine cavity in cases of retained abortion in the first trimester, identified as such by ultrasound examination. A precise delineation of the karyotype was obtained in 94% of the cases, while the efficiency of karyotype analysis in samples of spontaneous abortion was not higher than 50%. An abnormal chromosome constitution was found in 145 fetuses (76.7%) of which 117, including mosaics, were aneuploid (70%), 16 polyploid (8.5%) and 12 had structural abnormalities (6.3%). The relative proportion of chromosome abnormalities in this material is higher than that found in spontaneous abortion for trisomies and double trisomies, but lower for 45,X and polyploidy. The method was found to be efficient in obtaining fetal karyotypes also in those cases in which the villous material was scarce (1 mg), and thus it seems appropriate for routine cytogenetic studies in the first trimester abortions.

Abortion, Spontaneous↗
PubMed1977

The value of reverse banding in detecting bone marrow chromosomal abnormalities: translocation between chromosomes 1, 9, and 22 in a case of chronic myelogenous leukemia (CML).

A case of chronic myelogenous leukemia (CML) with complex chromosomal abnormalities is reported. Conventional staining techniques indicated incorrectly that the Ph1 chromosome was not present. These studies showed a 46,XY,-1,+C karyotype in all bone marrow cells. Employing RFA (R bands by fluorescence using acridine orange) technique it was clear that the part of the long arm of chromosome 1 (1q23 leads to qter) was missing the tip of the long arm chromosome 22 (band q22) was translocated to it. The missing long arm of chromosome 1 was translocated to the long arm of chromosome 9. Furthermore, there was a break at band 9q22 and the whole terminal part was lost. The value of RFA technique is discussed.

Acridines↗
PubMed1987

An update of chromosomal abnormalities in mares.

Chromosomal abnormality was detectable in 98 of 180 mares aged 3 years or over with gonadal dysgenesis. The most common abnormality was X monosomy (63,X). The second most common abnormality was a karyotype indistinguishable by G- or C-banding from that of a male horse (64,XY). Two mares demonstrated structural abnormality of one X chromosome [64,X,del(Xp)] which has not previously been reported in horses. One of these foaled a filly with the same karyotype as her dam. Blood typing confirmed parentage of the foal. This is the only example in our experience of fertility in a mare with gonadal dysgenesis and chromosomal abnormality. Chromosomal abnormalities were also found in 4 yearling fillies investigated solely because of small size, poor conformation and lack of vigour. One was 63,X; one was 63,X/64,XX; one was 64X,del(Xp) and the 4th had an autosomal trisomy, tentatively 64,XX,i(?26), which demonstrated a second new abnormal karyotype of the horse.

Animals↗