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At least 1,225 records · Page 68Linked to original sources
PubMed1991

Multiple clonal chromosome abnormalities in Peyronie's disease.

Numerical and structural chromosome aberrations were found in cell plaque metaphases from 9 of 14 patients with Peyronie's disease. In two cases there was evidence of clonal evolution for some of the chromosomal aberrations observed. The Y chromosome was the most frequently involved in numerical changes. Four of 9 cases with abnormal karyotype showed more than one abnormal, cytogenetically unrelated clone. Our findings suggest the possibility of a multiclonal origin for this benign tumor, and confirm the presence of chromosome instability in this cell growth disorder.

Adult↗
PubMed1973

Chromosomal abnormalities in spleens of New Zealand black mice, a strain characterized by autoimmunity and malignancy.

Mosaicism of normal and chromosomally aberrant cells was detected in 14 of 20 spleens from adult New Zealand Black (NZB) mice reared under conventional conditions, a strain that spontaneously develops autoimmunity and lymphoreticular malignancy. No abnormalities were found in marrows from these same animals or in spleens from NZB mice younger than 3 months. The prevalence of chromosomal aberrations was significantly higher in spleens from NZB mice than in spleens from the two other strains studied-SJL/J, which has high frequency of reticulum cell neoplasia and paraproteinemia but no autoimmunity, and BALB/c, which has essentially no autoimmunity and only a low incidence of generalized lymphoid neoplasms and plasmacytomas in ageing animals. Causes for the chromosomal abnormalities in NZB mice are considered in terms of other features in these mice-immunoproliferation, autoimmunity, and the presence of murine leukemia ("C"-type) virus particles.

Age Factors↗
PubMed1986

Chromosomal abnormalities in human retinoblastoma. A review.

In part because of an association between the tumor and the constitutional chromosome 13q deletion syndrome and the finding of 13q deletions or monosomy 13 in retinoblastoma cells from individuals with normal constitutional karyotypes, chromosome 13q is postulated to contain a gene responsible for tumorigenesis in retinoblastoma. A review of the cytogenetics of retinoblastoma (incorporating an analysis of five previously unpublished cases and 77 cases from the literature) revealed recurrent abnormalities (in addition to those involving number 13, 21% of cases) that included: additional copies of 1q material (44%), isochromosome (6p) (45%), monosomy 16 (18%), marker 1p+ (13%), and homogeneously staining regions and double minutes (9%). Possible roles for these chromosome abnormalities in tumor development are discussed.

Alleles↗
PubMed2003

Abnormal chromosome 8 copy number in cytological smears from breast carcinomas detected by means of fluorescence in situ hybridization (FISH).

Numerical change in chromosome 8 is an acquired abnormality associated with high clinical stage and may be involved in the conversion of carcinoma in situ in the breast to invasive carcinoma. Fine needle aspiration smears from 53 cases of breast carcinoma were hybridized with centromeric probes for chromosome 8 and the X chromosome. Thirty-eight cases revealed chromosome 8 copy gain. Of the 45 grade II and III tumours, 28 showed polysomy (>3 signals) and six showed trisomy. Of the eight grade I tumours, four were trisomic, none were polysomic. There were only two cases of chromosome 8 copy loss (one each of grade I and III). X chromosome polysomy was also a frequent finding although the signal counts were similar to those for chromosome 8 in only a few cases. Chromosome 8 polysomy occurs frequently in breast carcinoma and high copy number (>3) is associated with high malignancy grade.

Aneuploidy↗
PubMed1983

Adenocarcinoma of the gallbladder: chromosome abnormalities in a genetic form of cancer.

Chromosome studies on gallbladder adenocarcinoma in a Papago Indian woman were performed. These studies revealed a high degree of aneuploidy including multiple instances of missing chromosomes, extra chromosomes, and chromosome rearrangements. Double minute chromosomes and homogeneous staining regions on chromosomes were present in the cancer cells. To our knowledge this is the first report on the cytogenetic analysis of a gallbladder cancer. Chromosome studies on gallbladder cancers will be of unusual interest because of the relatively high frequency of this rare genetic form of cancer in American Indians.

Adenocarcinoma↗
PubMed1991

Evolution of tumor chromosome abnormalities after therapy in a pediatric astrocytoma.

Chromosome studies originally performed on a patient with an untreated pontine astrocytoma showed a trisomy for 1q as the sole chromosome aberration. After the patient received radiation and chemotherapy, subsequent study indicated the presence of the original trisomy for 1q, as well as trisomy for chromosomes 2, 3q, and 17, in a tumor that now, histologically, is glioblastoma multiforme. In addition to the numerical aberrations, chromosome rearrangements were observed, involving translocation breakpoints that have been reported as "hot spots" associated with the clastogenetic effect of ionizing radiation.

Astrocytoma↗
PubMed1990

Chromosomal abnormalities in a selected population in Kurume.

Chromosomal aberrations were evaluated between 1974 and 1987 in 1077 individuals, consisting of 1042 pediatric patients and 35 adults who visited Kurume University Medical Center. Chromosomal aberrations were detected in 187 out of the 1042 (18%) children. These 187 children exhibited at least 108 types of symptoms or syndromes which were suggestive of chromosomal aberrations. Chromosomal aberrations were suspected in 757 pediatric patients who presented with 22 types of symptoms or syndromes. Among these 757, a total of 187 patients with chromosomal aberrations were identified, resulting in an overall incidence of 24.7% (187/757). Autosomal aberrations were demonstrated in 150 out of 672 children in whom autosomal aberrations had been suspected, yielding a detection ratio of 22.3% (150/672), whereas sex chromosome aberrations were found in 37 patients out of 85 who were suspected of possible sex chromosome aberrations, with a detection rate of 43.5% (37/85). The detection rate of chromosome aberrations was almost 20 to 30 times higher than that in the random surveys carried out by others in general newborn populations. This high detection rate suggests that a high incidence of chromosomal aberrations may be encountered in medical centers to which patients at risk with respect to chromosomal aberration syndromes are referred by local physicians. Chromosomes were analyzed also in a total of 37 adults, consisting of 26 women and 9 men, who had had abortions. The age at which abortions had occurred ranged from 23 to 39 years in women, and 25 to 35 years in men, respectively. Twelve women and 6 men out of the 35 people exhibited normal karyotypes. The satellite associations of D group and G group chromosomes were observed in 15 out of the 35 people.

Abortion, Spontaneous↗
PubMed1979

Acute agnogenic myeloid metaplasia with chromosomal abnormalities.

A case of a 37-year-old woman presenting with acute agnogenic myeloid metaplasia (AAMM) is described. The disease had a stormy course and was characterized by moderate splenomegaly, persistently depressed WBC counts, extramedullary hemopoiesis and presence of a high percentage of atypical myeloblasts in the peripheral smear. Platelets were persistently low, reticulocytes significantly below normal, notwithstanding anemia. Hot tended to fall progressively to intolerably low values in the absence of transfusion. The chromosomal mapping of peripheral blood revealed the presence of a trisomy of chromosome No. 8. This abnormality already demonstrated in two previous cases of acute myelofibrosis and the clinical course of the disease suggest that acute myelofibrosis and AAMM could be the same disease while chronic myelofibrosis should be considered a separate entity. Also, it is possible that AAMM with trisomy of chromosome No. 8 and stormy clinical course may be a different entity from the acute myeloproliferative disorders associated with other chromosomal abnormalities.

Acute Disease↗
PubMedDate not supplied

Survival in non-immune hydrops fetalis without malformation or chromosomal abnormalities after invasive treatment.

The aim of the study was to determine the outcome of fetuses with non-immune hydrops (NIH) following modern invasive investigation and therapy. This prospectively planned observational study involved 23 women with singleton fetuses in whom a diagnosis of NIH was made in our fetal medicine unit in 1 year. After investigation and counselling 15 of the 23 women opted for termination of pregnancy (10 chromosomal and 5 structural abnormalities) and there was 1 intrauterine fetal death before therapy was attempted. One case with diaphragmatic hernia was treated with shunting which successfully reversed the hydrops, the pregnancy continued to term, the malformation was surgically corrected but the neonate died from pulmonary hypoplasia. In the remaining 6 cases structural and chromosomal abnormalities were excluded. One had amniotic fluid drainage for polyhydramnios but despite this delivered at 30 weeks' gestation and the neonate died on day 5. The remaining 5 cases had fetal therapy between 22 and 32 weeks' gestation (4 shunt insertions, 1 blood transfusion) and in all the hydrops reversed and the pregnancy continued to at least 35 weeks' gestation. All 5 neonates were discharged from hospital alive and well. Fetal therapy in cases of NIH with normal structure and karyotype was associated with a very good outcome. Giving a uniform poor prognosis is no longer justified because if other fetal abnormalities are excluded, in utero treatment, reversal of the hydrops and survival are often possible. We recommend urgent referral of these cases to a fetal medicine unit.

Adolescent↗