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PubMedDate not supplied

Chromosome abnormalities and sister chromatid exchanges in children with acute intoxication due to inhalation of volatile substances.

Deliberate inhalation of volatile substances is a common and harmful practice among young persons worldwide. Recently, we described chromosome damage in children who chronically inhale volatile agents. Clinical and cytogenetic studies were performed for 15 "sniffing" children (13 boys and 2 girls), the purpose of which was to define the chromosomal effect of the acute intoxication. A significant increase in the rate of chromosome abnormalities and in the frequency of sister chromatid exchanges (SCEs) was found in sniffers vs. controls. The values were also higher in children who were acutely intoxicated than in those who chronically inhaled volatile agents. Clinical, socioeconomic, and cytogenetic findings are also discussed.

Adolescent↗
PubMed1983

Chronic myelomonocytic leukemia with a chromosome abnormality (46,XY,20q-) in all dividing myeloid cells: evidence for clonal origin in a multipotent stem cell common to granulocyte, monocyte, erythrocyte, and thrombocyte.

In a typical case of chronic myelomonocytic leukemia (CMML), a chromosome abnormality, 46,XY,20q-, was observed in all the dividing cells including up to 16-ploid cells in the bone marrow and the blood. As the mitotic figures could be easily seen not only in myelomonocytoid cells but also in erythroblasts in the bone marrow smear, it was concluded that all the cell lineages except lymphocytes had the abnormality. The present case will support the view that the leukemic process in CMML affects a multipotent stem cell rather than a granulocyte-monocyte committed stem cell.

Aged↗
PubMed1995

Nuchal translucency thickness and crown-rump length in twin pregnancies with chromosomally abnormal fetuses.

We retrospectively examined the crown-rump length and nuchal translucency thickness of each fetus in eight twin pregnancies in which karyotyping at 10 to 14 weeks' gestation demonstrated that at least one of the fetuses was chromosomally abnormal. Eight fetuses had trisomy 21 and two had trisomy 18. The nuchal translucency thickness was more than 2.5 mm in nine (90%) of the trisomic fetuses and in one of the chromosomally normal ones. In contrast, the crown-rump length was below the fifth percentile in only one of the fetuses with trisomy 18; all other measurements were within the normal range.

Adult↗
PubMed1998

The umbilical artery pulsatility index in the first trimester: is there an association with increased nuchal translucency or chromosomal abnormality?

OBJECTIVE: The aim of this study was to examine the possible association between umbilical artery pulsatility index (PI) at 10-14 weeks of gestation and either increased fetal nuchal translucency (NT) or fetal chromosomal abnormality. DESIGN: This was a prospective study of women undergoing chorionic villus sampling (CVS). SUBJECTS: A total of 458 women undergoing CVS were studied; in 418 cases the karyotype was normal and in 19 cases fetal trisomy 21 was identified. METHODS: Data from the women with a normal fetal karyotype and in whom the NT was also normal were used to calculate reference anges for the umbilical artery PI. Associations were sought between umbilical artery PI and increased NT and between the PI and fetal trisomy 21. RESULTS: We found no association between umbilical artery PI and NT, nor was there a difference in the PI between chromosomally normal pregnancies and those with fetal trisomy 21. CONCLUSION: The results suggest that fetoplacental vascular resistance per se does not contribute to increased NT and that measurement of the umbilical artery PI does not contribute to the first-trimester detection of fetal trisomy 21.

Adult↗
PubMedDate not supplied

Bipolar disorder associated with Klinefelter's syndrome and other chromosomal abnormalities.

A patient with bipolar disorder and previously undiagnosed Klinefelter's syndrome presented with acute mania refractory to pharmacotherapy and was successfully treated with electroconvulsive therapy. This case constitutes the 31st case report documenting the coexistence of bipolar disorder with chromosomal anomalies and the 14th such patient with Klinefelter's syndrome. The relevance of this case to understanding the genetics of bipolar disorder is explored through a review of previously published reports of bipolar patients with chromosomal abnormalities. The relatively high incidence of Klinefelter's syndrome among this group of patients is discussed in the context of evidence for linkage of bipolar illness to the X chromosome.

Adult↗
PubMed1986

Chromosome abnormalities in pupils attending ESN/M schools.

One hundred and sixty six children attending educationally subnormal/mild (ESN/M) schools were karyotyped as part of a project investigating the aetiology of mild mental retardation. Nine had significant chromosome abnormalities. Five of six children identified during the survey had no dysmorphic features--47,XXY (two), 48,XXYY, 46,XX 15q-, and 46,XX,t(X;19). One dysmorphic boy had a balanced translocation--46,XY,t(3;15). Three were already known--47,XX+21 (two) and 46,XY, 14q+. We suggest that routine karyotyping of children with mild mental retardation be considered.

Child↗
PubMed1985

Hypomelanosis of Ito associated with benign tumors and chromosomal abnormalities: a neurocutaneous syndrome.

A 14-year-old Japanese boy with hypomelanosis of Ito (HI) who has been followed up from the neonatal period is described. In addition to neurocutaneous symptoms consisting of intractable epilepsy, severe mental retardation, sensory neuropathy and cutaneous hypopigmentation, the following abnormalities were detected; a ventricular septal defect, a mature cystic teratoma in the posterior mediastinum, a diploic epidermoid cyst of the parietal bone and chromosomal abnormalities, i.e. mos, 45, XY, t(14q 21q)/46, XY, t(14q 21q)+mar. This disorder showed not only multisystem involvement but also tumor formation, which had not been reported previously. Because of this, it is better to use the term "Ito syndrome" instead of "HI" or "incontinentia pigmenti achromians (IPA)," which emphasize only the cutaneous symptoms.

Adolescent↗
PubMed1977

Chromosomal abnormalities in protein-calorie malnutrition.

Cytogenetic studies were carried out in five children suffering from moderate to severe protein calorie malnutrition and five healthy controls, using direct preparations of bone marrow using conventional techniques. In the control group there were two abnormalities out of 152 plates analyzed, and in the malnutrition group there were 16 out of 186. This difference is statistically significant, P less than 0.005, implying that chromosomal abnormalities are more frequent in protein calorie malnutrition.

Bone Marrow Cells↗
PubMed1995

Detection of fetal cells in transcervical samples and prenatal diagnosis of chromosomal abnormalities.

Transcervical samples collected by lavage, aspiration, and cytobrush from women between 6 and 13 weeks of gestation were tested for the presence of fetal cells using fluorescence in situ hybridization (FISH) with probes for chromosomes X, Y, 1, and 21, and by polymerase chain reaction (PCR) amplification of DNA sequences derived from chromosomes X, Y, and 21. With a few exceptions, a good correlation was observed between the results of sexing the fetuses using FISH or PCR on transcervical cell (TCC) samples retrieved by lavage and those obtained by testing fetal (placental) tissue. In a comparative study between TCC samples collected by lavage or cytobrush, the sex of the fetus was correctly diagnosed by PCR amplification of a Y-derived DNA sequence. Variable results were observed with samples obtained by aspiration, mainly because this procedure was found to be more prone to failure to remove thick mucus without previous injection of physiological saline. Chromosome 21-derived small tandem repeats (STRs) of fetal origin were successfully detected in about 40 per cent of TCC samples recovered by lavage. Two cases of chromosomal abnormalities, one of trisomy 21 and one of triploidy, were detected in TCC samples in the course of our investigations.

Cell Separation↗
PubMed2000

Correlation of clinical picture (event free survival and overall survival) in childhood acute leukemia patients with immunophenotype and chromosomal abnormalities.

In a group of 102 children with different immunological subtypes of acute leukemia, both lymphoblastic and nonlymphoblastic, the clinical parameters - event free survival and overall survival were correlated with numerical and structural chromosomal abnormalities. In a group of 80 ALL patients genetic abnormalities were observed in 40 patients, from those 19 of numerical type, 17 of structural type and 4 with both, numerical and structural anomalies. From the whole ALL group observed 23 patients (28.75%) died. In 10 died patients genetic abnormalities were found and in 6 cases less mature T-phenotype ALL has been documented. It seems, therefore, that immature T-phenotype with pathological karyotypes of all types of genetic anomalies presents the most risk group of patients of which all children died. ALL patients, as a whole, with pathological karyotype have shown significantly lower event free survival rate, comparing to the group of ALL patients with normal karyotype. Overall survival rate was also lower in the first group, but statistically not significant. In T-ALL patients, in both groups, with and without pathological karyotype, event free survival rate and overall survival rate were also lower in the first group, but statistically not significant. In B-ALL patients with pathological karyotypes vs. normal ones overall survival rate was lower in the first group, but statistically not significant. There was no difference in overall survival rate in these patients between pathological and normal karyotypes. In ANNL group of patients pathological karyotype was observed in 14 of them, with numerical anomalies in 6 patients, structural in 4 patients and both of them - numerical + structural in 4 children. From the whole ANLL group observed 11 (50%) patients died during the follow-up period (9 in relapse and 2 of treatment complications). From 11 died patients in 81.8% pathological karyotype was present. The prevalence of pathological karyotypes was observed in less mature M0-M2 ANLL subtype (71.4%). ANLL patients with pathological karyotype have shown significantly lower event free survival rate (in one of the two statistical log-rank analyses), comparing to the group of ANLL patients with normal karyotype. Overall survival rate was also lower in the first group, but statistically not significant. The presence/absence of CD34 marker expression in blast cells of our group of acute leukemia patients did not show any difference in event free survival and overall survival rates.

Adolescent↗
PubMed1990

A cell culture, chromosomal and quantitative DNA analysis of a metastatic epithelioid sarcoma. Deletion 1p, a possible primary chromosomal abnormality in epithelioid sarcoma.

The chromosomal banding pattern and the in vitro growth characteristics of a metastatic epithelioid sarcoma are described. The cultured tumor cells retained growth characteristics as well as ultrastructural and immunohistochemical properties similar to the cells of the primary tumor. Cytogenetic analysis revealed a modal range in the diploid-hypodiploid region, a finding which was corroborated by quantitative DNA determinations of both the primary tumor and a lymph node metastasis. Fourteen different marker chromosomes were identified. The most frequent clonal rearrangement was a 1p-marker resulting from a short arm terminal deletion, i.e., del (1) (p21-22). A similar 1p- marker has previously been observed in an established epithelioid sarcoma cell line. The finding of an apparently identical 1p-marker in two of two analyzed epithelioid sarcomas suggests that this rearrangement may be a primary cytogenetic abnormality in epithelioid sarcoma. An elevated ras p21 expression was demonstrated using immunohistochemical methods. The possible involvement of the N-ras gene and/or a tumor suppressor in the 1p deletion is considered.

Chromosome Aberrations↗
PubMed1980

Chromosomal abnormalities. Findings in a patient with lymphoma and rheumatoid arthritis treated with intra-articular gold Au 198.

Cytogenetic studies from the peripheral blood of a patient with malignant lymphoma and rheumatoid arthritis who was treated with intra-articular gold Au 198 revealed mosaicism with a normal female metaphase and a 43-chromosome metaphase. The abnormal cell line showed six missing normal chromosomes and three morphologically abnormal chromosomes. The trypsin-digested G-banding metaphases showed that the marker chromosomes were an isochromosome of the long arm of chromosome 17, a translocated chromosome that involved the long arm of chromosome 4 and a chromosome 16, and a translocated chromosome that involved the long arm of chromosome 4 and a chromosome 5. It is tempting to conclude that these abnormalities were due to the gold Au 198 treatment, but we cannot exclude other possibilities.

Aged↗
PubMed2006

Hidden chromosomal abnormalities in pleuropulmonary blastomas identified by multiplex FISH.

BACKGROUND: Pleuropulmonary blastoma (PPB) is a rare childhood dysontogenetic intrathoracic neoplasm associated with an unfavourable clinical behaviour. CASES PRESENTATION: We report pathological and cytogenetic findings in two cases of PPB at initial diagnosis and recurrence. Both tumors were classified as type III pneumoblastoma and histological findings were similar at diagnosis and relapse. In both cases, conventional cytogenetic techniques revealed complex numerical and structural chromosomal abnormalities. Molecular cytogenetic analysis (interphase/metaphase FISH and multicolor FISH) identified accurately chromosomal aberrations. In one case, TP53 gene deletion was detected on metaphase FISH. To date, only few cytogenetic data have been published about PPB. CONCLUSION: The PPB genetic profile remains to be established and compared to others embryonal neoplasia. Our cytogenetic data are discussed reviewing cytogenetics PPBs published cases, illustrating the contribution of multicolor FISH in order to identify pathogenetically important recurrent aberrations in PPB.

Child, Preschool↗
PubMed1999

Numerical and structural chromosomal abnormalities detected in human sperm with a combination of multicolor FISH assays.

A pair of multicolor FISH assays (X-Y-21 and A-M-16) was developed for human sperm to simultaneously measure sex ratios; aneuploidies involving chromosomes 1, 16, 21, X, and Y; meiotic diploidies; and structural aberrations involving chromosome 1p. Sex ratios in sperm were not significantly different from unity among healthy men. Baseline frequencies of disomic sperm for chromosomes 1, 8, and 21 were similar (6.7 per 10(4) sperm, 95% CI of 5.6-8.1), suggesting that among these three chromosomes, chromosome 21 was not especially prone to nondisjunction. Frequencies of disomy 16 sperm were significantly lower, however (3.5 per 10(4) sperm, 95% CI of 2.0-6.2; P < 0.02). The baseline frequencies of sperm disomy by FISH for chromosomes 16 and 21 were validated against aneuploidy data obtained by the hamster-egg technique for human sperm cytogenetics. The frequencies of X-X, Y-Y, X-Y ("Klinefelter") sperm and sex-null ("Turner") sperm were 5.5, 5.1, 5.5, and 7.8 per 10(4) sperm, respectively. For chromosomes 16 and 21, the frequencies of nullisomic and disomic sperm were similar, suggesting that gain and loss events occurred symmetrically. However, more gain than loss was reported for chromosomes 1, X, and Y. The frequency of MI and MII diploid sperm (with flagella) was approximately 12 per 10(4) (range 8.3-16.7 per 10(4) sperm). Based on flagella data, the frequency of somatic cells in the semen was estimated to be approximately 1.8 per 10(4) sperm. Loss or gain of a portion of chromosome-arm 1p occurred in 5.5 per 10(4) sperm, and the percentage of sperm carrying structural aberrations within the haploid genome as calculated from FISH (1.4%), was similar to that obtained with the hamster-egg technique. These complementary sperm FISH assays have promising applications in studies of chromosomally abnormal sperm after exposure to occupational, medical, and environmental toxicants.

Adult↗
PubMed2005

Detection of chromosomal abnormalities by comparative genomic hybridization.

PURPOSE OF REVIEW: Comparative genomic hybridization (CGH) is a modified in-situ hybridization technique. In this type of analysis, two differentially labeled genomic DNAs (study and reference) are cohybridized to normal metaphase spreads or to microarray. Chromosomal locations of copy number changes in the DNA segments of the study genome are revealed by a variable fluorescence intensity ratio along each target chromosome. Thus, CGH allows detection and mapping of DNA sequence copy differences between two genomes in a single experiment. RECENT FINDINGS: Since its development, comparative genomic hybridization has been applied mostly as a research tool in the field of cancer cytogenetics to identify genetic changes in many previously unknown regions. It is also a powerful tool for detection and identification of unbalanced chromosomal abnormalities in prenatal, postnatal and preimplantation diagnostics. SUMMARY: The development of comparative genomic hybridization and increase in resolution analysis by using the microarray-based technique offer new information on chromosomal pathologies and thus better management of patients.

Chromosome Aberrations↗
PubMed2002

T-cell prolymphocytic leukemia with hemorrhagic gastrointestinal involvement and a new chromosomal abnormality.

We report a case of T-cell prolymphocytic leukemia in a 56-year-old woman who exhibited hemorrhaging with gastric involvement as the first manifestation. This patient's condition was diagnosed as T-cell prolymphocytic leukemia based on the findings of lymphocytosis, abnormal immunophenotype, hepatosplenomegaly, lymphadenopathy, and cutaneous involvement. Endoscopic examination of the upper gastrointestinal tract revealed hemorrhage from a gastric lesion with histological involvement. Cytogenetic analysis revealed chromosomal abnormalities, 46,XX,der(1), add(1)(p36), that have not previously been described in T-cell prolymphocytic leukemia. In spite of a transient response to chemotherapy, the patient died 15 months after onset of the disease.

Antigens, CD↗
PubMed1988

Comparative analysis of oncogene expression and chromosome abnormalities between metastatic and nonmetastatic B16 melanoma clones.

We have established nonmetastatic mouse B16 melanoma clone, C1-2, and metastatic variant, C4-1, by subcloning the 30th passage of nonmetastatic W1-4 cells. We have investigated oncogene expression and chromosomal abnormalities to see whether there is some correlation with tumor progression and phenotypic diversification in melanoma cells. Not only metastatic C4-1 but also nonmetastatic C1-2 showed similarly high expression of c-Ha-ras and c-myc oncogenes by Northern blotting method. The chromosome numbers of both clones were distributed mainly within the range of 48-52. C1-2 had about 20 biarmed chromosomes and C4-1 had 13 or 14, which made real ploidy of C1-2 and C4-1, hypotetraploidy and triploidy, respectively. 21 marker chromosomes were commonly observed, while 9 marker chromosomes peculiar to C1-2 and 4 peculiar to C4-1 were constantly recognized. In partial accordance with a previous report, chromosomes 4, 5, 6, 8, 10, 13, 18, 19, and X were additionally observed in nonmetastatic C1-2 cells, compared with metastatic C4-1 cells. Furthermore, in our study, the increase of chromosomes 1, 15, and 16 was found to be greater in metastatic C4-1.

Animals↗
PubMed1995

Chromosomal abnormalities in choriocarcinomas of the female.

We have studied six cases of choriocarcinomas in the female by conventional cytogenetic analysis and by in situ hybridization using a 12p painting probe, and found evidence for chromosome 12 abnormalities in two of them. Abnormalities of chromosome 12 are a common occurrence in genitourinary tumors of the female, but their significance is not known. We discuss the present findings in relation to those in malignant ovarian germ cell tumors (MOGCTs).

Choriocarcinoma↗