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PubMed1980

Consistent chromosome abnormalities associated with mouse bladder epithelial cell lines transformed in vitro.

Nine epithelial tumor cell lines that were derived from inbred C57BL/lcrf-at adult male mouse bladder and were transformed in vitro were cytogenetically analyzed. Most cell lines were near-diploid and showed only minor karyotypic deviations from normal. Tetraploid cell lines showed duplication of chromosome markers, which suggested that they arose originally as near-diploid cell lines with minor karyotypic changes. Chromosome abnormalities were consistent among different cell lines and involved chromosomes #6, #3, and #15. The Y-chromosome was frequently missing. Identical chromosome abnormalities were present in cell lines that arose in control, dimethyl sulfoxide-treated, or 7, 12-dimethylbenz[a]anthracene-treated cultures. The most frequent abnormality was was the presence of three copies (trisomy) of chromosome #6. Few structural chromosome abnormalities were detected, although a marker chromosome derived from chromosome #3 was present in several cell lines. Two cell lines had excesses of chromosome #15. These results suggest that excesses of individual chromosomes or parts of chromosomes, particularly chromosome #6, may be important in the expression of the malignant phenotype in mouse bladder epithelium.

9,10-Dimethyl-1,2-benzanthracene↗
PubMed1992

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding.

Data on structural chromosome abnormalities identified during prenatal diagnosis were used to estimate the number of such abnormalities that would be detectable in an unselected series of newborns using moderate levels of banding (400 to 500 bands). These estimates were compared with the rates detected in nonbanded surveys of newborns. Between 1976 and 1990 prenatal diagnosis using banding techniques was carried out in our laboratory on 14,677 women aged 35 and over. Among these, we detected 112 structural rearrangements, 32 unbalanced and 80 balanced. These figures were adjusted by two methods to give an estimate of the frequency of structural abnormalities in the newborn. Our data suggest that the use of moderate levels of banding increases the frequency of unbalanced structural abnormalities from 0.052 to 0.061% and of balanced structural abnormalities from 0.212 to 0.522%. Thus, the total number of chromosome abnormalities detectable in the newborn is increased from 0.60% in unbanded preparations to 0.92% in banded preparations.

Adult↗
PubMed2006

Secondary chromosomal abnormalities predict outcome in pediatric and adult high-stage Burkitt lymphoma.

BACKGROUND: Karyotypic abnormalities in sporadic Burkitt lymphoma (BL) have been described extensively. However, to the authors' knowledge, very limited studies have focused on the secondary chromosomal abnormalities in pediatric BL as compared with those of adult BL and on their prognostic impact. METHODS: A retrospective analysis was performed in all pediatric and adult patients at 2 institutions, with a morphologic diagnosis of BL, pretherapy tumor karyotype available, and t(8;14), t(8;22), or t(2;8) present. RESULTS: There were 33 children and 37 adults. The majority of the patients (95%) had Stage III/IV disease. There were no statistically significant differences noted in karyotype complexity and the nature of the chromosomal abnormalities between these 2 groups. Abnormalities of chromosomes 13 (13q) and 22 (22q) had a negative impact on prognosis in children. In adults, abnormalities of chromosome 17 appeared to have a negative impact. CONCLUSIONS: The current findings suggest that karyotypic information can be used for refining risk stratification in patients with BL.

Adolescent↗
PubMed1992

Chromosomal abnormalities in patients with Hodgkin's disease: evidence for frequent involvement of the 14q chromosomal region but infrequent bcl-2 gene rearrangement in Reed-Sternberg cells.

BACKGROUND: Rearrangements of the bcl-2 gene (also known as BCL2) have been detected in up to 40% of cases of Hodgkin's disease, and it has been speculated that such rearrangements may have a role in the pathogenesis of Hodgkin's disease. PURPOSE: The purposes of this study were (a) to assess the frequency of clonal chromosomal abnormalities in Hodgkin's disease, (b) to identify recurrent changes, (c) to determine whether the bcl-2 gene rearrangement was present in Reed-Sternberg cells (the neoplastic cells of Hodgkin's disease) and their variants, and (d) to analyze whether the presence of t(14;18) translocations in Reed-Sternberg cells explains the observed bcl-2 gene rearrangements in Hodgkin's disease. METHODS: A cytogenetic study was performed on biopsy specimens from 28 consecutive untreated patients with Hodgkin's disease. The same patients were analyzed for bcl-2 gene rearrangement by a polymerase chain reaction (PCR) technique. To ascertain whether the abnormal karyotypes were present in and restricted to Reed-Sternberg cells, we also performed in situ hybridization with chromosome-specific probes. RESULTS: Abnormal metaphases were identified in 23 of the 28 patients. In 11 patients, the chromosome 14q region was abnormal; in six of these patients, there was involvement of the 14q32 region that comprises the gene encoding for heavy-chain immunoglobulin. Only one patient had a t(14;18) translocation, whereas almost 40% of these 28 patients showed bcl-2 gene rearrangements by a PCR method. The in situ hybridization method showed that the abnormal karyotype was present in and restricted to Reed-Sternberg cells. CONCLUSIONS: We conclude that the majority of cases of Hodgkin's disease contain a clonal population with an abnormal karyotype, comprising the Reed-Sternberg cells. The q32 region of chromosome 14 is frequently involved, but a t(14;18) translocation is extremely infrequent. The occurrence of a bcl-2 gene rearrangement in Hodgkin's disease most likely results from the presence of sporadic, small bystander B lymphocytes that carry the translocation and that also can be frequently detected in reactive lymphoid tissue such as tonsils. Also, a range of different chromosomal translocations may provide growth or survival advantages to Reed-Sternberg cells.

Chromosomes, Human, Pair 14↗
PubMed1990

Follow-up of 25 unselected children with sex chromosome abnormalities to age 12.

Twenty-five unselected children with sex chromosome abnormalities have been followed to a mean age of 12 years. The IQ distribution was slightly below the normal level at the age of 4 to 7, but at the age of 8 to 11 the IQ distribution had improved to within normal limits. We interpret this to be due to the provision of information and counseling to the parents, and use of all available resources for stimulation of the children, including both parental resources and kindergarten, school, and social system resources. All the children attended regular schools. Remedial teaching was given to slightly more than one-third of the children in mathematics and reading. The children were average or above average at school, irrespective of karyotype, if they had a very good home with parents who had been willing and able to follow our counseling, and if the children had been given stimulation, remedial teaching, and speech therapy as and when needed. Parents with a child with a sex chromosome abnormality usually need information, counseling, and assistance. The type and magnitude of this assistance depend on the individual child, the specific sex chromosome anomaly, and the parents' own resources, psychologically, socially, and otherwise.

Adolescent↗
PubMed1976

Non-random and random chromosomal abnormalities in transformed chronic granulocytic leukaemia.

Chromosome abnormalities, identified using a banding technique and additional to the Ph, are reported in 10 consecutive cases of transformed chronic granulocytic leukaemia. In most of the cases the abnormalities were non random. In 2 cases serial studies were performed and additional abnormalities found, antedating transformation by one week and two months respectively. In 2 others the Ph status had been established during the chronic phase of the disease. In the remaining cases the first chromosome analysis was performed at the time of transformation.

Adult↗
PubMed2002

[Study on the origin of aberrant clones with chromosome abnormalities in MDS].

OBJECTIVE: To study the origin of aberrant clones with chromosome abnormalities in MDS. METHODS: Antibodies recognizing myeloid cells (CD33), B cells (CD19) and T cells (CD2) were used to sort bone marrow cells of ten MDS patients with chromosome abnormalities (trisomy 8 five cases, trisomy 8 accompanying trisomy 9 one case, trisomy 8 accompanying 7p- one case, 20q- two cases, t (1; 7) one case) by Immuno-Magnetic Bead technique, then the positive cells for CD33, CD19 or CD2 were detected respectively by interphase FISH using the centromeric probes for chromosomes 1, 7and 8, and the locus specific probe for 20q12. 200 to 300 cells were scored for each detection. RESULTS: FISH showed that trisomy 8, t (1; 7) and 20q- all affected CD33 positive cells, but not CD2 positive cells in these ten MDS patients. Only in one MDS patient, 20q- affected the CD19 positive cells. CONCLUSION: Our data suggest that the chromosomal aberrations in MDS are mostly restricted to myeloid cell lineages, but B lymphocytes are involved in minor MDS implying that abnormal clone originated from a multipotent hematopoietic progenitor.

Adult↗
PubMed1997

Chromosomal abnormalities in sperm from testicular cancer patients before and after chemotherapy.

Sperm chromosome abnormalities were assessed in testicular cancer patients before and after treatment with BEP (bleomycin, etoposide, cisplatin). The frequencies of disomy for chromosomes 1, 12, X, Y and XY were assessed along with diploid frequencies and sex ratios by multicolour fluorescence in situ hybridization (FISH). For each cancer patient, a minimum of 10,000 sperm was assessed for each chromosome probe before and after chemotherapy (CT). Data was analysed "blindly" by coding the slides. A total of 161097 sperm were analyzed, 80,445 before and 80,642 after treatment. The mean disomy frequencies were 0.11% pre-CT vs 0.06% post-CT for chromosome 1, 0.18% vs 0.15% for chromosome 12, 0.10% vs 0.9% for the X chromosome, 0.13% vs 0.10% for the Y chromosome and 0.25% vs 0.20% for XY sperm. There was no significant difference in the frequency of disomy pre-CT vs post-CT for any chromosome except that chromosome 1 demonstrated a significant decrease after CT. The "sex ratios" and frequency of diploid sperm were also not significantly different in pre and post-CT samples with 50.2% X-bearing sperm pre-CT and 50.5% X post-CT and 0.14% diploid sperm pre-CT vs 0.15% diploid sperm post-CT. There was no significant donor heterogeneity among the cancer patients. None of the values in the cancer patients differed significantly from 10 normal control donors. Thus our study suggests that BEP chemotherapy does not increase the risk of numerical chromosomal abnormalities in human sperm.

Adult↗
PubMedDate not supplied

Chromosomal abnormalities in patients with azoospermia in Western Mexico.

In order to assess the frequency of chromosomal abnormalities in azoospermic males from western Mexico, we carried out a retrospective study in 227 patients. Forty-three (18.9%) cases with an abnormal karyotype were found. The most frequent chromosomal anomaly was 47,XXY, which was identified in 35 subjects (15.4%). In six cases (2.6%), structural aberrations were detected: two Robertsonian translocations [(45,XY,t(13;22)(p11;p11) and (45,XY,t(13;15)(p11;p11)], a Y;autosome translocation [46,XY,der(15)t(Y;15)(q12;p11)], and three mosaics [mos45,X/46,X,idic(Y)(q11)]. In general, these findings are in accordance with those from other surveys and confirm that the XXY aneuploidy is the most frequent chromosomal abnormality in azoospermic individuals.

Chromosome Aberrations↗
PubMed2002

Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure.

Using comparative genomic hybridization, we have detected chromosome abnormality in 76/126 (60%) single blastomeres biopsied prior to implantation from embryos from 20 women with repeated implantation failure following IVF. The abnormalities detected included aneuploidy for one or two chromosomes [32/126 (25%)] and complex chromosomal abnormality [37/126 (29%)]. Most of the chromosomes involved in single aneuploidy were those commonly found in live births or spontaneously aborted fetuses, whereas a greater range of chromosomes were involved in double aneuploidy. In blastomeres with complex abnormality, random and extensive loss and gain of all the chromosomes was observed. Further blastomeres from 25 embryos with single or double aneuploidy and 11 embryos with complex abnormality were analysed following embryo disaggregation. The specific abnormality was confirmed in the majority of cases and in some cases could be assigned as errors in meiotic or mitotic segregation. Complex abnormalities, suggestive of errors in cell cycle regulation, were present in a slightly higher proportion of these embryos than were seen in our previously studied cohort of surplus embryos. The disruption of the normal sequence of chromosome replication and segregation in early human embryos, caused either by maternal cytoplasmic factors or mutations in cell cycle control genes, may be a common cause of repeated implantation failure.

Adult↗
PubMed1975

Certain patterns of karyotype evolution in chronic myelogeneous leukaemia. Chromosome abnormalities in CML.

The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell lines. The most frequent abnormalities were i(17q) and trisomy 8. The regularities of karyotype evolution in the terminal stage of CML are discussed.

Adult↗
PubMed1982

Short communication: skeletal maturation of children with sex chromosome abnormalities.

Skeletal maturity, or "bone age," is one of the several criteria used to determine developmental or physiologic age as opposed to chronologic age. The purpose of this study of skeletal maturation of children with sex chromosome abnormalities (45,X, 47,XXX, 47,XXY, X-chromosomal mosaics) and controls is 2c-fold: (1) to investigate if children with sex chromosome aneuploidy ascertained in an unbiased fashion differ in skeletal maturation from their siblings and other normal healthy children born in Denver, Colorado, and (2) to assess if the skeletal age standards currently in use (Greulich-Pyle; Tanner- Whitehouse) are applicable to Denver children when evaluating radiographs for skeletal maturation. Mean chronologic and skeletal age were measured. Mean differences between skeletal and chronologic age for all groups across all measures were calculated. The 45,X females constitute the only group studied with bone ages lower than expected (0.05 greater than P greater than 0.01; two-tailed test). We found no other significant differences in skeletal maturation between Denver children with sex chromosome abnormalities and their siblings or the control sample of Denver children. Although we found the Tanner-Whitehouse standards to be more applicable for use with this population, all the Denver groups investigated yielded consistently lower bone ages than expected published norms. This is the first documentation in a group of children with sex chromosome abnormalities, ascertained in an unbiased fashion, that, with the exception of those with a 45,X karyotype, bone age is not significantly different from that of the normal population.

Adolescent↗
PubMed1993

[Fetal chromosome abnormalities diagnosed by chorionic villi sampling].

Chorionic villus sampling was performed for chromosome analysis in 387 cases during a 4-year-period. In 115 cases transcervical while in 272 cases transabdominal sampling was carried out. Chromosomal abnormalities were found in 25 cases (6.4%). Autosomal trisomies occurred in 17 cases, structural anomalies in 2 cases and sex chromosomal aberrations in 6 cases. The pregnancy was terminated in 19 cases because of chromosome abnormality, in 5 further cases because of X-linked disease and male fetus. After transcervical sampling spontaneous abortion occurred in 7 cases (5.8%), while after transabdominal sampling in 8 cases (2.8%). The authors prefer in their practice the early transabdominal CVS, which can be performed safety already at the end of the first trimester.

Chorionic Villi Sampling↗
PubMed1998

Nonrandom numerical chromosome abnormalities in basal cell carcinomas.

Clonal chromosome abnormalities were found in 22 of 23 short-term cultured basal cell carcinomas (BCC) of the skin. The karyotypic abnormalities were nonrandom and in several cases included evidence of clonal evolution. Especially in cultures showing an epithelial growth pattern, simple numerical changes, most commonly +18, +9, +20, +7, and +5, predominated and presumably constitute pathogenetically important aberrations present in the neoplastic parenchyma. Also, several structural rearrangements of chromosome arm 9q were seen, which may be of particular interest against the background that a gene for familial BCC (Gorlin syndrome), the PTCH gene, maps to this region. Finally, most of the clonal aberrations detected in predominantly fibroblast-like cultures are likely to reflect changes acquired by cells of the tumor stroma, which raises the question whether mutations also of this tumor component may play a pathogenetic role in BCC development.

Adult↗
PubMed2005

Mechanisms and consequences of paternally-transmitted chromosomal abnormalities.

Paternally-transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring, including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction, producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission, and early embryonic consequences of paternally-derived chromosomal abnormalities. The available evidence suggests that: 1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage, with male postmeiotic cells being the most sensitive; 2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and 3) there are maternal susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and that directly affect the risk for abnormal reproductive outcomes.

Aneuploidy↗
PubMed1990

Is chromosome 10 a primary chromosomal abnormality in endometrial adenocarcinoma?

Seven cases of endometrial adenocarcinoma (EC) are reported. Two of these cases exhibited diploid chromosome ranges and showed simple rearrangements involving a chromosomal abnormality of chromosome 10. In four cases, the chromosome number ranged between 50 and 70; rearrangements were more complex, with many abnormalities such as homogeneously stained regions, minutes, dicentrics, and ring chromosomes. In one case, two subpopulations of cells were detected, one in a diploid chromosome range with chromosome 10 altered, and the second, very pleomorphic. These abnormalities are probably due to the evolution of a destabilized genome and represent a consequence of the advanced stage of the disease. The importance of simple abnormalities as clues to the primary chromosomal change, and the possibility that chromosome 10 represents the primary chromosomal alteration event in EC, are discussed.

Adenocarcinoma↗
PubMed1989

The human T cell receptor genes are targets for chromosomal abnormalities in T cell tumors.

T cells express either of the two forms of antigen-specific receptors, the alpha/beta and gamma/delta heterodimers. Their structure closely resembles that of immunoglobulins, and the variable part of the receptor molecule is created by somatic assembly of variable, diversity, and joining regions. The genetic structure of T cell receptor (TCR) genes and their rearrangement in T cell development have been elucidated in great detail in recent years. The human genes for the gamma and beta subunits are located on the short and long arms of chromosome 7, respectively, whereas the delta- and alpha-chain genes are located in tandem on the centromeric half of the long arm of chromosome 14. Expression of either alpha/beta or gamma/delta TCR complexes on T cells in the developing thymus is likely to proceed in an ordered fashion and results in the appearance of distinct T cell subpopulations. The process of DNA rearrangements required for the generation of functional variable region genes also predisposes lymphoid cells to aberrant DNA rearrangements, which can be detected as chromosomal abnormalities such as translocations and inversions. Molecular analysis of such aberrant rearrangements has shown that rearranging loci are fused to loci unrelated to antigen receptor genes. Furthermore, the breakpoint structures represent nonproductive intermediates in the hierarchy of physiological rearrangements. Accordingly, T cell tumors arising early in T cell development often carry chromosomal abnormalities involving the delta-chain locus, whereas tumors generated later in T cell development tend to show aberrations in the alpha-chain gene. This pattern seems to reflect the stage-specific accessibility of TCR loci for rearrangement by the recombinase machinery. This enzyme is guided by specific recombination signals that can sometimes also be found at the site of breakage on the participating locus in chromosomal abnormalities. Although some features of the mechanism of aberrant rearrangements are known, their biological consequences are less well understood. However, molecular analysis of the mechanism of chromosomal aberrations in T cell tumors suggests that their biological consequences may vary. Firm evidence for the pathogenic significance is missing for most of these lesions. This provides a challenge to molecular immunology to determine how chromosomal abnormalities are involved in tumor pathogenesis.

Amino Acid Sequence↗
PubMed1999

[Diagnosis of sex chromosome abnormality by fluorescence in-situ hybridization].

OBJECTIVE: To evaluate the diagnostic value of fluorescence in-situ hybridization (FISH) in sex chromosome abnormality. METHOD: alpha-satellits DNA probes of X, Y chromosomes were used to FISH with blood samples from 19 patients with primary anemia or of gonad dysplasia. Five infertile men who were detected abnormal by G-banding analysis during metaphase and interphase. Samples from healthy men and women were used as positive controls and reactions with hybridization fluid without probes as negative controls. RESULTS: The karyotypes, 45, X; 45, X/46, XX/47, XXX; 45, X/46, XY; 47, XXY; 45, X/46, XXX were detected by FISH. Others were not detected by G banding such as 45, X/46, X,r? 46, X,r? but were found to be 45, X/46, X,r(X), 46, X, r(X), by FISH technique, confirming to be X ring chromosome. A female patient whose karyotype was 45, X/46, X, mar. by G banding. But G banding technique could not analyze the property of the marker and FISH revealed the marker was dici(yq), that is dicentric chromosome Y with two long arms of equal length. The real karyotype was 45, X/46, X, dici(yq) mosaicism. It belonged to Y chromosome abnormal and gonadal dysplasia syndrome. CONCLUSION: FISH can help to detect those chromosome abnormalities which can not be confirmed by traditional cytogenetics. It is of value in studying the complex chromosome mutation such as sex chromosome abnormality, unknown little marker, ring chromosome, mosaiciasm and translocation.

Adolescent↗