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PubMed2006

Wide range of chromosome abnormalities in the embryos of young egg donors.

Embryo chromosome studies show high rates of abnormalities, above 50%, but most embryos studied were from patients aged 35 and older. The objectives of this study were firstly, to evaluate the rate of chromosome abnormalities in embryos from young egg donors, and secondly, to compare the range of chromosome abnormality rates between donors and non-egg donor cycles, both undergoing preimplantation genetic diagnosis (PGD) for infertility using fluorescence in-situ hybridization analysis with probes for chromosomes X, Y, 13, 15, 16, 18, 21, and 22. On average, only 43% of the embryos were chromosomally normal, while the comparison group had euploidy rates between 34 (age group 18-34) (P < 0.001) and 21% (age group 40-45) (P < 0.001). There was considerable variation between donor cycles, with almost one-third having less than 30% normal embryos. Also, within donors and recipients repeating several IVF cycles with PGD, only 29-56% of the second PGD cycles had similar rates of normal embryos to the first cycle, while in the comparison group it was 64%. The results can explain why some egg donors are successful whereas others are not, and may also show that a policy of PGD for first time egg donors is appropriate and indicated.

Adolescent↗
PubMed1991

Rapid karyotyping in the second and third trimesters for fetuses at risk of chromosomal abnormalities at Chulalongkorn Hospital.

Transabdominal fetal blood sampling under ultrasonic guidance was performed in 20 fetuses at 18 to 34 weeks gestation. Pure fetal blood was obtained in all cases; 11 from the umbilical veins at the placental cord insertion, 7 from the fetal intrahepatic veins and 2 from the fetal hearts. Rapid karyotype was obtained within 7 days by fetal lymphocyte culture. Chromosomal abnormality was detected in 5 (25.0%) fetuses. Abnormal karyotype was found in 4 of 8 fetuses with structural malformations detected by antenatal ultrasound and in 1 of 5 fetuses of elderly mothers at advanced gestational ages. This suggested that in fetuses at risk of chromosomal abnormality, rapid karyotype should be obtained and fetal blood sampling is justified in the second or third trimester.

Adolescent↗
PubMed1997

Bovine parthenogenesis is characterized by abnormal chromosomal complements: implications for maternal and paternal co-dependence during early bovine development.

The present study was conducted to examine the karyotypes of parthenogenetic bovine embryos arising from the application of standard oocyte activation and diploidization methods. Bovine cumulusoocyte complexes were collected and matured in vitro for 24 hr prior to oocyte activation with either 5 microM ionomycin or 7% ethanol for 5 min. Groups of activated oocytes were further treated with 5 micrograms/ml cytochalasin D or 1.9 mM 6-dimethylaminopurine (DMAP) for 6 hr. Cleavage varied significantly (P < .05) among the treatment groups with 68.0% of the ethanol- and DMAP-treated oocytes dividing. Blastocyst development did not vary with 18.4 +/- 2.5% of all treated oocytes progressing to this stage. Blastocyst development did not occur in groups subjected to oocyte activation alone. Blastocysts displayed haploid (2.3%), diploid (11.4%), tetraploid (40.9%), octaploid (4.5%), and mixoploid chromosomal complements (40.9%). Two-cell stage parthenogenotes resulting from ethanol or ionomycin treatment alone displayed haploid (66.7%), diploid (16.7%), tetraploid (4.2%), and mixoploid (12.5%) complements. Our results demonstrate that diploid bovine parthenogenotes arising from these procedures are a minority, with the majority of parthenogenotes displaying polyploid and mixoploid chromosomal complements. The events contributing to these abnormal chromosomal complements occur as early as completion of the first cell cycle, possibly linking these events with the absence of a paternally supplied centrosome.

Adenine↗
PubMed1991

The effects of spermatozoal irradiation with X-rays on chromosome abnormalities and on development of mouse zygotes after delayed fertilization.

The chromosome complements of zygotes derived from oocytes aged post ovulation and fertilized in vivo with X-ray-irradiated sperm were studied. Ovulation was induced by an injection of luteinizing hormone-releasing hormone (LHRH) at pro-estrus and fertilization was achieved by artificial insemination at 13 h and 24 h after LHRH in order to obtain embryos from unaged and aged (12 h post-ovulation) oocytes respectively. Post-ovulatory aging prior to fertilization did not significantly affect the percentage of zygotes with irradiation-induced chromosome abnormalities. However, post-ovulatory aging had a negative effect on the morphology of male as well as female pronuclear chromosomes of the first cleavage metaphase. When fertilized with control spermatozoa this effect was apparent in both the male and the female pronucleus. When unaged oocytes were fertilized with X-irradiated spermatozoa chromosome morphology was also adversely affected in both pronuclei. In zygotes from aged oocytes, there was an extra negative effect of X-rays on the male pronuclear chromosomes only. After fertilization with X-irradiated sperm 27% of zygotes from aged oocytes were arrested at interphase compared to 7% from unaged oocytes. We suggest that post-ovulatory aging and X-rays affect the male and female pronuclear chromatin structure after fertilization. These chromatin alterations could interact with DNA lesions induced in the spermatozoa prior to fertilization, such that development to first cleavage can be blocked.

Animals↗
PubMedDate not supplied

Chromosomal abnormalities among 246 fetuses with pleural effusions detected on prenatal ultrasound examination: factors associated with an increased risk of aneuploidy.

PURPOSE: To determine the prevalence of chromosomal abnormalities in fetuses with prenatally diagnosed pleural effusions and to identify factors associated with an increased risk of aneuploidy. METHODS: A retrospective analysis of the Genzyme Genetics database was performed for samples submitted from October 1994 to April 2003 with an indication of fetal pleural effusion. RESULTS: There were 246 samples in which pleural effusion was identified as an indication for prenatal chromosome analysis. Ninety-four were from fetuses with isolated pleural effusions and 152 had other abnormalities in addition to pleural effusion. The prevalence of chromosome abnormalities was 35.4% (95% confidence interval, 29.2-41.4%). Among the eight first trimester samples, the aneuploidy rate was 63%. Pleural effusion cases associated with additional sonographic findings had a significantly higher aneuploidy rate than the isolated pleural effusion cases (50% vs. 12%, P < 0.001). CONCLUSIONS: Chromosome analysis is warranted after the prenatal detection of a fetal pleural effusion. The risk of aneuploidy is greater with first trimester detection and is significantly increased in the presence of other associated anomalies.

Amniocentesis↗
PubMed1994

Clear cell adenocarcinoma of the vagina in a young female, treated by combination chemotherapy (local and systemic chemotherapy), complicated with chromosomal abnormality.

Although cancer of the vagina, a rare form of genital cancer, is usually squamous cell carcinoma in women over the age of 50 years, vaginal clear cell adenocarcinomas (CCA) are exceedingly rare. The pathogenesis of clear cell adenocarcinoma is uncertain, but as a clinical entity, it is most commonly associated with diethylstilbestrol exposure in utero. We report a rare case of primary vaginal CCA in a 17-year-old female who was not exposed to diethylstilbesterol in utero. The case, which was complicated with chromosomal abnormality, was treated with combination chemotherapy. To our knowledge, this is the first reported case of vaginal CCA in a woman with chromosomal abnormality and bicornate uterus.

Adenocarcinoma, Clear Cell↗
PubMed1991

Establishment of a rhabdoid tumor cell line with a specific chromosomal abnormality, 46,XY,t(11;22)(p15.5;q11.23).

The malignant rhabdoid tumor is a rare, poorly understood tumor which occurs primarily in children. The kidney is a frequent primary site of origin, but the tumor has arisen in other mesodermally derived tissues as well. Controversy exists regarding the embryonic origin of the rhabdoid tumor and recent histopathologic studies suggest that it may be of neuroepithelial origin. Our immunohistochemical and electron micrographic studies support this theory. No consistent chromosome abnormalities have been reported in this tumor and no cell lines are available for study. We have established and characterized the first rhabdoid tumor cell line. It possesses a specific chromosomal abnormality, 46,XY,t(11;22)(p15.5;q11.23). The translocation may provide an important clue to the pathogenesis of the tumor as well as an opportunity for further study of the involved chromosome regions.

Adult↗
PubMed2000

Ticlopidine-induced aplastic anemia: development of chromosomal abnormalities and response to immunosuppressive therapy.

Severe aplastic anemia is a well-recognized complication of ticlopidine therapy that carries a high mortality. Therapy with colony-stimulating factors or corticosteroids has been largely ineffective in this disorder. We report a case of ticlopidine-induced aplastic anemia that was successfully treated with cyclosporine and high-dose dexamethasone. The patient rapidly responded to immunosuppressive therapy and had a normal hemogram after cessation of immunosuppression. On long-term follow-up, the patient developed a progressive macrocytic anemia. Repeat bone marrow evaluation demonstrated myelodysplasia with erythroid hypoplasia. An associated chromosomal abnormality consisting of a t(3;16) (q21; p13.3) translocation was detected. This is the first report of a chromosomal abnormality associated with ticlopidine induced marrow aplastic anemia.

Aged↗
PubMed1999

[Nuchal translucency: screening for chromosomal abnormalities and congenital malformations. Multicenter study].

OBJECTIVE: To value the rate of chromosomal abnormalities and evolution of children who had a prenatal diagnosis of fetal nuchal translucency in the first trimester. MATERIAL AND METHODS: Multicenter prospective study conducted in 4,582 patients who had a first ultrasonography between 10 and 14 weeks' gestation (abdominal and/or transvaginal sonography). The measurement of fetal nuchal translucency was performed by mid-sagittal section and when it was higher than 2.5 mm a fetal karyotype was made. RESULTS: Three hundred and fifty eight nuchal translucencies (> 2.5 mm) were diagnosed and 334 karyotypes were done. We found 25 chromosomal anomalies (7.4%): 14 trisomies 21; 7 trisomies 18; 2 trisomies 13; one triploidy and one trisomy X. The postnatal examination of children detected three congenital malformations (0.9%): one facial dysmorphia, one complex abnormal heart anatomy and one renal agenesia. CONCLUSION: Nuchal translucency (> 2.5 mm) is therefore a sonography sign associated with 7.4% of chromosomal anomalies. The distribution by size and mother ages is low. It should need superior larger-scale studies are needed for representative data. But this study shows that if fetal karyotype is normal, the incidence of congenital malformations seems to be the same by comparison with the general population.

Chromosome Aberrations↗
PubMed1996

The roles of oligomenorrhoea and fetal chromosomal abnormalities in spontaneous abortions.

The pathogenesis of spontaneous abortions, other than fetal chromosomal abnormalities, is not fully understood. We examined the incidence of oligomenorrhoea in relation to fetal chromosomal analyses and ultrasonographic examination in women who aborted spontaneously. The data demonstrated that the incidence of oligomenorrhoea was higher in women with normal fetal karyotyped abortions, especially normal karyotyped anembryonic pregnancies, than in those with abnormal karyotyped abortions (34.0 versus 12.5%, P < 0.01). Furthermore, the incidence of oligomenorrhoea was inversely correlated with fetal size exclusively in abortions with normal fetal karyotypes. It is suggested that oligomenorrhoea, i.e. delayed ovulation, itself may be closely associated with sporadic spontaneous abortion.

Abortion, Spontaneous↗
PubMed2001

Molecular cytogenetic characterization and clinical relevance of additional, complex and/or variant chromosome abnormalities in acute promyelocytic leukemia.

Acute promyelocytic leukemia (APL) is characterized by typical morphological manifestation, t(15;17) translocation and active response to all-trans retinoic acid (ATRA) in the great majority of patients. However, a subset of APL cases may present atypical phenotypic, cytogenetic or molecular features at different stages of the disease. The biological and clinical significance of these features sometimes remains obscure. In this study, 284 APL patients were cytogenetically analyzed and precise diagnosis was performed according to the molecular cytogenetic results. Twenty-six APL patients were identified as having additional, complex and/or variant chromosomal abnormalities at diagnosis or at relapse, 16 of them being further analyzed using fluorescence in situ hybridization (FISH) or chromosome painting (CP). Interestingly, some of these chromosomal aberrations were found to be associated with atypical morphology and/or drug response, indicating a genotype-phenotype correlation. Analysis of the complex karyotype may also allow a better understanding of the levels of cellular origin of the leukemogenesis. Examination of the remission induction and survival data showed that the presence of the additional/complex chromosome abnormalities was related to the prognosis in both primarily diagnosed and relapsed patients in this series.

Adolescent↗
PubMedDate not supplied

Detection of numerical chromosomal abnormalities in malignant cells in fine needle aspirates by fluorescence in situ hybridization of interphase cell nuclei with chromosome-specific probes.

The feasibility of detecting numerical chromosomal abnormalities (NCA) in malignant cells on fine needle aspirates (FNA) using the fluorescent in situ hybridization (FISH) technique was tested on clinical specimens from patients with various neoplasms. Directly labeled DNA probes specific for chromosomes 8 and 12 were used for in situ hybridization to interphase cell nuclei. Thirty-nine of 42 samples from various sites were evaluable. Based initially on the Papanicolaou-stained slides, there were 32 malignant and 7 benign samples. Blind analysis (200 cells per sample) showed that all benign samples had a normal number of chromosomes, while 27 of 32 malignant samples showed different NCA composed of 5-95% of the cell population and ranging from 1 to 10 chromosome signals per cell. We conclude that interphase cytogenetic cell analysis of FNA by FISH is (1) feasible and gives superior signals for detection of NCA, and (2) relatively simple, with a turnaround time of less than 24 hours. This method may have diagnostic and prognostic application in the study of the biologic behavior of malignant neoplasms.

Adenocarcinoma↗
PubMed1998

Chromosomal abnormalities and molecular genetics of non-Hodgkin's lymphoma.

A number of recurring cytogenetic abnormalities have been identified in lymphomas that correlate with clinical, morphologic, and immunophenotypic features. For example, the t(14;18) is observed in a high proportion of follicular small cleaved cell lymphomas, most patients with translocations involving 3q27 have diffuse large cell lymphomas (B cell), and patients with a t(8;14) have either small noncleaved cell or diffuse large cell lymphomas. In contrast, a large proportion of neoplasms of T-cell origin are characterized by rearrangements that involve 14q11, 7q34-35, or 7p15. Molecular analysis of many of the recurring chromosomal translocations in lymphomas has resulted in the identification of the involved genes. Alterations in expression of these genes or in the production of an altered protein resulting from the rearrangement play an integral role in malignant transformation. In addition to chromosomal abnormalities, other types of mutations affecting oncogenes have been identified in lymphomas. This article reviews the genetic mutations involved in the pathogenesis of non-Hodgkin's lymphoma (NHL) with an emphasis on chromosomal abnormalities.

Chromosome Aberrations↗
PubMed1967

Chromosome abnormality in rat leukemia induced by 7,12-dimethylbenz[a]anthracene.

A high percentage of consistent chromosome abnormality, trisomy of the longest telocentric chromosome, was found in leukemias induced in rats of the Long-Evans strain by pulse doses of 7,12-dimethylbenz[a]anthracene. Cells with this abnormality were large, immature, and mononuclear and tended toward erythroblastic maturation.

Animals↗
PubMed2003

A new chromosome banding technique, spectral color banding (SCAN), for full characterization of chromosomal abnormalities.

We have developed spectral color banding (SCAN) as a new chromosome banding technique based on spectral analysis of differentially labeled chromosome band-specific painting probes. In this study, we succeeded in displaying a multicolor banding pattern for chromosome 3, which was almost identical to the pattern obtained with the corresponding G-banding. We applied this method to metaphase cells from different normal male donors with various levels of G-banding resolution, ranging from 250 to 850 bands per haploid set. The same multicolor banding pattern was observed in all samples regardless of the length of the chromosomes or the quality of the G-banding. We then used SCAN in a diffuse large B-cell lymphoma case for a complete analysis of the intrachromosomal change for chromosome 3, which could not be fully characterized by G-banding or even by spectral karyotyping (SKY). SCAN could detect the duplicated segment and identify the origin of the chromosome band on the basis of the specific spectral color of each band. This study demonstrates that SCAN is a useful tool for full characterization of chromosomal abnormalities not identified by SKY.

Bone Marrow Neoplasms↗
PubMed1989

[Chromosomal abnormality of trisomy 4 in a patient with acute nonlymphocytic leukemia (FAB: M2)].

We report a patient with acute nonlymphocytic leukemia (FAB classification: M 2) with trisomy 4, which is the first case in our country. A 42-year-old man was admitted to our hospital because of fever and general fatigue in May, 1988. His WBC count was 8,100/microliters with 90% of leukemic cells and bone marrow smear showed 76.1% leukemic cells. The chromosomal analysis of marrow cells by G-banding revealed 47, XY, +4. In spite of administration of chemotherapy complete remission was not obtained, and he died of septic shock and severe liver damage 4 months after making the diagnosis. Chromosomal abnormality of trisomy 4 has been reported to be associated with predominantly either M 4 or M 2, and to be less than 0.1% of incidence in ANLL, according to the Second MIC Cooperative Study Group. It is suggested that trisomy 4 may be caused by exposure to some environmental factors such as toxic substances, since this chromosomal abnormality has been reported in the last 10 to 20 years.

Adult↗
PubMed2004

Chromosomal abnormalities of 200 Chinese patients with non-Hodgkin's lymphoma in Taiwan: with special reference to T-cell lymphoma.

BACKGROUND: The distribution of the histopathological subtypes of non-Hodgkin's lymphoma (NHL) is different among various geographical areas. However, there are few reports concerning cytogenetic findings of NHL, especially T-cell lymphoma, in Asian people. PATIENTS AND METHODS: We analyzed the chromosomal abnormalities of 200 adult patients with NHL in Taiwan and correlated the non-random aberrations with the histological subtypes. RESULTS: One hundred and thirty-eight patients (69%) had B-cell lymphoma. The incidence of the t(14;18) in total lymphoma was lower in Taiwan (12%) than in the West (20-30%), but its incidence in follicular lymphoma was comparable between the two areas (17 of 28 patients, 61% versus approximately 50-60%). Sixty-two patients (31%) had T-cell lymphoma, including 11 angiocentric T/natural killer (NK)-cell lymphoma and only two angioimmunoblastic T-cell lymphoma (AILD). The recurrent chromosomal abnormalities in T-cell lymphoma comprised 6q deletion (30%), 11q deletion (20%), 17p deletion (16%), -17 (16%), -Y (14%) and + 8 (11%). Angiocentric T/NK-cell lymphoma had a significantly higher frequency of 1q duplication (P=0.001), 6p duplication (P <0.001) and 11q deletion (P=0.011) than other T-cell lymphoma. The incidences of +3 and +5, two common abnormalities in AILD, were quite low in T-cell lymphoma in Taiwan (4% and 2%, respectively), compared with those in the West (16-32% and approximately 15%, respectively). The 11q deletion, not a common aberration in T-cell lymphoma in western countries, occurred quite frequently in Taiwan. CONCLUSIONS: The chromosomal aberrations of NHL are quite different among various geographical areas, which may reflect the differences in the distribution of the histological subtypes of lymphoma among various areas.

Adult↗