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PubMed2003

[Clinical and experimental studies on five cases of acute myeloid leukemia with translocation t(16;21)(p11;q22)].

OBJECTIVE: To report five cases of acute myeloid leukemia (AML) with t(16;21)(p11;q22) translocation and the result of chromosome painting analysis on one of them. METHODS: Chromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was made by R-banding technique. Chromosome painting was performed using whole chromosome probes 16 and 21 in 1 case. RESULTS: Karyotype analysis showed identical translocation t(16;21)(p11;q22) in all five cases, accounting for 0.3% of 1448 cases of acute myeoid leukemia examined in the past fifteen years. Moreover, chromosome painting distinctly demonstrated t(16;21) in one of them. Leukemia blasts did not show hemophagocytosis in all of them. CONCLUSION: t(16;21) translocation is a rare and recurring chromosome rearrangement. It represents a specific type of AML. Chromosome painting technique is a more reliable means for detecting it, compared with the conventional karyotype analysis.

Acute Disease↗
PubMedDate not supplied

Karyotyping in retinoblastoma--a statistical approach.

PURPOSE: Karyotype analysis in hereditary retinoblastoma is considered to be of marginal value in risk prediction due to uncertainties in the assessment of 13q14 deletions. However, it is a low cost genetic test for retinoblastoma in developing countries. In the present study, the results of karyotype analysis were refined by a statistical method to overcome limitations. METHODS: Karyotype analysis was performed by trypsin-Giemsa banding and naked eye karyotyping for 33 bilateral, 25 unilateral and one regressed retinoblastoma patients. The percentage of metaphases with 13q14 deletions in each case was plotted on a scatter diagram. Normalization of the data was achieved by log transformation and the results were statistically analyzed by one-sample 't' test using SPSS version 9.0. RESULTS: Seven samples had 13q14 deletion percentages above the cutoff value. One-sample 't' test showed significance (p< 0.001). By this method, two unilateral and five bilateral patients had 13q14 deletions, constituting 11.8 % of cases. CONCLUSION: For accuracy, statistical analysis should be considered as an adjunct in karyotyping.

Chromosome Banding↗
PubMed2000

Characterization of complex chromosomal abnormalities in B-cell lymphoma by a combined spectral karyotyping (SKY) analysis and fluorescence in situ hybridization (FISH) using a 14q telomere probe.

We report a case of non-Hodgkin's lymphoma of unknown origin with invasion into bone marrow and brain. This case showed complex chromosomal abnormalities, including five clonal marker chromosomes (mar) and four additional materials of unknown origin (add) that could not be identified by means of conventional G-banding. Spectral karyotyping (SKY) analysis could not only determine the origin and organization of all thus far unidentified structural chromosomal abnormalities but also detect two cryptic unbalanced translocations, which had been erroneously considered to be normal on the basis of G-banding analysis, and correct one abnormality misidentified by G banding. Among these abnormalities, we identified the new partner site of the 14q32 translocation, 22q13, and the jumping translocations involving 2p23 as a new donor chromosome. Furthermore, by using fluorescence in situ hybridization (FISH) with the probes specific for the 14q telomere, we could identify the unbalanced translocation of t(3;14)(q27;q32), which had been erroneously considered to be normal chromosome 3 on the basis of not only G-banding but also of SKY analysis. This translocation is one of the most frequent chromosomal abnormalities in B-cell lymphoma, especially diffuse large cell lymphoma. After SKY and FISH analysis, the original descriptions in the G-band karyotype were modified for a total of 13 chromosomes. The combination of SKY and FISH using the 14q telomere probe was therefore considered very useful for the characterization of complex cytogenetic cases in B-cell lymphoma.

Chromosome Aberrations↗
PubMed1996

Analysis of 3p allelic loss in papillary and nonpapillary renal cell carcinomas. Correlation with tumor karyotypes.

Nonpapillary renal cell carcinomas (RCCs) are characterized by deletions of the short arm of chromosome 3 (3p) and papillary RCCs by increased numbers of selected chromosomes. Although recent molecular genetic studies have reported some papillary RCCs to show loss of heterozygosity (LOH) on 3p, a 3p deletion has not been demonstrated in a papillary RCC by karyotype analysis. To investigate this apparent discrepancy between molecular methods and chromosomal changes in the genetic evaluation of RCC, a series of 13 papillary and nonpapillary RCCs was investigated for 3p LOH by PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis and for 3p and 3q LOH by microsatellite analysis. Karyotypes were obtained in six cases. Loss of 3p but not of 3q alleles was found in 8 of 10 nonpapillary RCCs. The region of overlapping deletion was 3p14--p21, and in six cases the deletion involved 3pter loci. One papillary RCC displayed 3p and 3q LOH, but the tumor had two morphologically normal chromosomes 3 and several trisomies. This indicated that nondisjunction of a chromosome from one parent compensated a whole chromosome loss from the other parent during tumor development. LOH in this papillary RCC constituted a reduction of chromosome 3 alleles to homozygosity, but the karyotype change, consisting of an increased number of whole chromosomes and an absence of a structural chromosome 3 abnormality, is regarded as being more characteristic of papillary than nonpapillary RCC.

Alleles↗
PubMed2000

An autopsy case of Klinefelter's syndrome suspected and its DNA analysis.

UNLABELLED: We experienced an autopsy case, small testes and tall stature, which suggested Klinefelter's syndrome. DNA analysis was performed to confirm the genetic abnormality. CASE HISTORY: A 28-year-old man who was single and lived with his parents. He suddenly lost his consciousness in a sitting room and died. Autopsy findings: He was 176 cm in height and 57 kg in weight. The post-mortem hypostasis was red-purple on his back, and rigor mortis was strong in each joint of the whole body. The heart weighted 340 g, in which dark red fluidal blood (300 ml) without coagulation was contained. The testes were smaller than normal adult male (left and right testes with epididymides weighted 8.1 g and 6.0 g, respectively). As a results of pathological examination, clumped Leydig cells, sclerotic and hyalined tubules were observed. Some germ cells with spermatozoid were also present. DNA Analysis: Generally, Klinefelter's syndrome is determined by karyotype analysis and/or the detection of sex chromatin. However, in this case, karyotype analysis and the detection of sex chromatin could not be demonstrated, because the blood which was collected in the autopsy became too old. Therefore, we tried sex determination and STR analysis (HPRT, HUMARA and DXS 1470) using DNA extracted from stored blood materials. Consequently, in the sex determination, no different situation was found in the X- and Y-specific bands from normal male's and as results of STR analyses, we could not corroborate the Klinefelter's syndrome.

Adult↗
PubMed2025

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics.

BACKGROUND: This study aimed to evaluate the efficacy of copy number variation sequencing (CNV-Seq) in detecting chromosomal abnormalities in prenatal diagnosis, comparing its performance with traditional karyotype analysis. METHODS: A retrospective analysis was conducted on 1001 prenatal samples collected between April 2021 and December 2023. Samples were analyzed using both CNV-Seq and karyotype analysis. The detection rates of chromosomal abnormalities were compared between the two methods across various prenatal diagnostic indications. Clinical follow-up was performed to assess pregnancy outcomes. RESULTS: CNV-Seq detected chromosomal abnormalities in 89 of 1,001 cases (8.9%), compared to 50 cases (5.0%) identified by traditional karyotyping. CNV-Seq not only detected all abnormalities identified by karyotyping, including common aneuploidies such as trisomy 21 and sex chromosome abnormalities, but also uncovered 53 additional pathogenic submicroscopic CNVs associated with 33 known syndromes. The detection rates of CNV-Seq were significantly higher in high-risk groups, such as those identified by non-invasive prenatal testing (HR-NIPT) and maternal serum screening (HR-MSS), demonstrating superior sensitivity and accuracy in prenatal diagnostics. CONCLUSION: CNV-Seq demonstrated superior sensitivity in detecting chromosomal abnormalities, particularly submicroscopic alterations, compared to traditional karyotyping. The study highlights the potential of CNV-Seq as a valuable tool in prenatal diagnostics, offering improved detection of genetic abnormalities and guiding clinical decision-making. However, a combined approach using both CNV-Seq and karyotype analysis is recommended for comprehensive prenatal genetic screening.

Humans↗
PubMed1998

Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome.

Turner syndrome (TS) is a common disorder (1/2500 and 1/5000 female births) which is diagnosed at birth in approximately 20% of patients and during childhood (usually due to growth retardation) or later, (due to lack of pubertal development) for the remaining patients. Here we present a cytogenetic and molecular analysis of three monozygotic sisters. The diagnosis of TS was done for one of them (patient 1) who presented with a typical Turner phenotype. A first karyotype was established as normal and a second karyotype (carried out on 200 cells) revealed a 45,X/46,XX mosaicism with 6% of cells with a 45,X karyotype. Lymphocyte karyotype analysis showed the same mosaicism pattern for the two other sisters, one of them exhibiting only a mild (patient 2) and the other no clinical features of Turner syndrome (patient 3). Karyotype analysis was this time conducted on fibroblasts and showed that the 45,X/46,XX mosaicism pattern correlated with the clinical phenotype with 99, 43 and 3% of 45,X cells in patients 1, 2, and 3, respectively. These data suggest that different tissues other than lymphocytes should be subjected to a karyotype analysis when the observed genotype does not correlate with the clinical phenotype.

Adolescent↗
PubMed1997

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

Karyotype analysis by chromosome banding is the standard method for identifying numerical and structural chromosomal aberrations in pre- and postnatal cytogenetics laboratories. However, the chromosomal origins of markers, subtle translocations, or complex chromosomal rearrangements are often difficult to identify with certainty. We have developed a novel karyotyping technique, termed spectral karyotyping (SKY), which is based on the simultaneous hybridization of 24 chromosome-specific painting probes labeled with different fluorochromes or fluorochrome combinations. The measurement of defined emission spectra by means of interferometer-based spectral imaging allows for the definitive discernment of all human chromosomes in different colors. Here, we report the comprehensive karyotype analysis of 16 samples from different cytogenetic laboratories by merging conventional cytogenetic methodology and spectral karyotyping. This approach could become a powerful tool for the cytogeneticists, because it results in a considerable improvement of karyotype analysis by identifying chromosomal aberrations not previously detected by G-banding alone. Advantages, limitations, and future directions of spectral karyotyping are discussed.

Chromosome Aberrations↗
PubMed1994

Stallion karyotype variability and lack of association with abortion: a case report.

Karyotype analysis was done on a stallion that impregnated 23 mares during the 1991 breeding season, of which 14 aborted between 2 and 4 mo fo gestation. Lymphocytes examined contained a 64,XY complement of normal appearing sex chromosomes and autosomes, except for slight dimorphism of the centric heterochromatin of chromosome No. 1. A skin biopsy was procured form the stallion for karyotype analysis, and the stallion was bred to 11 mares. Three mares were detected pregnant 16, 35, 45 d after breeding. The fetuses were recovered transcervically using curved intestinal forceps 47 (n=2) and 49 (n=1) d after breeding. Fetal tissue was rinsed and packed in culture media, transported overnight in a chilled container, cultured by standard tissue culture techniques, and prepared for karyotype analysis. No abnormalities were found in standard karyotypes from those cultures. One fetal karyotype revealed slight dimorphism of the heterochromatin of chromosome No. 1. Chromosome spreads obtained from the stallion's skin biopsy revealed a normal karyotype with no difference in the amount of heterochromatin present in No. 1 chromosomes. During the 1992 breeding season, the stallion impregnated 23 of 25 mares bred. Only 1 mare aborted, at 8 mo of gestation. Apparently, the amount of heterochromatin of No. 1 horse chromosomes can vary, and caution should be used in diagnosing this as a cause of pregnancy failure.

Journal Article↗
PubMed2005

[Establishment and application of a method for assessing hemopoietic chimerism in rhesus after allogeneic stem cell transplantation].

Monitoring engraftment of donor cells after allogeneic transplantation is the key of assessing successful establishment of animal transplantation model. The purpose of this study was to establish a method for analysis of chimerism in rhesus transplantation model. Y-specific sequence in rhesus was amplified by the polymerase chain reaction (PCR), method for analysis of chimerism in rhesus after sex-mismatched transplantation was established; the feasibility and sensitivity of the approach were tested by using serial DNA mixtures of sex-mismatched individuals; the accuracy of results was confirmed by chromosome karyotype analysis simultaneously; Chimerisms of one rhesus received allogeneic stem cell transplantation and the other received mesenchymal stem cells (MSC) transfusion were detected by this method. The results showed that a 176 bp long sequence of PCR product was gained in male rhesus, while no product was gained in female rhesus. The sensitivity of this method was up to 0.05% (male/female DNA ratio). Male donor chimerism were found on day 7 and 14 after allogeneic stem cell transplantation by Y-specific sequence and chromosome karyotype analysis. Otherwise, male donor chimerism was found in peripheral blood at 1 hour and in bone marrow on day 30 after MSC transfusion by this method, but no male donor chimerism was found after MSC transfusion using chromosome karyotype analysis. In conclusion, this rapid, sensitive approach can used to assess chimerism in experiments of rhesus alloorgan transplantation and cell transfusion.

Animals↗
PubMed1987

Assessment of methods for the cytogenetic analysis of human solid tumors.

A comparative study was undertaken to evaluate the effectiveness of various procedures (e.g., direct harvest vs. short-term culture) for the cytogenetic analysis of human solid tumors. A total of 51 specimens (38 primary tumors, 13 effusions) were examined from 45 patients with tumors of the ovary, lung, breast, colon, and testicles. Sufficient numbers (greater than or equal to 3) of metaphase cells to be useful for karyotypic analysis were obtained in 42 of 51 (82.3%) specimens. More than 10 analyzable metaphases were found in each of 32 specimens (62.7%), but in some cases it was necessary to examine many slide preparations to achieve this number. The rate of successful chromosome preparations was markedly better for short-term cultures than for specimens harvested directly. Short-term cultures generally showed a mitotic peak after about 3 days of growth in vitro. Generally, the quality of metaphase cells was better in specimens disaggregated enzymatically with collagenase than in those dissociated mechanically. Exposure to ethidium bromide (EB) for the final 2 hours of culture yielded more cells with elongated chromosomes than cultures harvested by conventional methods without EB. Overall, the findings indicate that successful karyotypic analysis can be performed in a high percentage of human solid tumors with the use of techniques that can be readily applied in most cytogenetics laboratories. However, further methodological advances in tissue culture are warranted to routinely provide large numbers of mitotic cells for karyotypic analysis.

Breast Neoplasms↗
PubMed1985

Cytogenetic evidence that the malignant event in multiple myeloma occurs in a precursor lymphocyte.

Multiple myeloma is traditionally thought of as a disease of plasma cells. Evidence from studies using antiodiotype antibodies, however, suggests that malignant events may take place in a precursor lymphocyte perhaps as early as the pre-B cell. In this study, we present cytogenetic evidence to support the latter view. Peripheral blood was obtained from a patient with plasma cell leukemia and light chain disease. Karyotypic analysis, using Giemsa banding techniques, showed an abnormal karyotype: 44,XY,-6,-8,-13,-16,-22,+mar1,+ mar2,+mar3,del(1)(p22,p32),11p+,13q+,14q+. A suspension culture was established and a plasma cell line was grown. It was characterized by transmission electron microscopy as having an eccentric nucleus, abundant cytoplasm, and extensive endoplasmic reticulum. A subculture of this line was subsequently grown that was characterized by transmission electron microscopy as a lymphoid cell with diminished quantity of cytoplasm without extensive endoplasmic reticulum. Karyotypic analysis of the smaller cell demonstrated a modal number of 88 chromosomes and was a tetraploid derivative of the first. Our study provides cytogenetic evidence that cells with a lymphocytic phenotype show karyotypic abnormalities seen in the malignant plasma cell of the same patient, and thus, can be considered as evidence favoring the initiating cell of plasma cell myeloma as being an early B lymphocyte.

Aged↗
PubMed1989

The origin of T cells in permanently reconstituted old athymic nude rats. Analysis using chromosome or allotype markers.

Athymic PVG-rnu/rnu rats receiving a single intravenous injection of syngeneic euthymic thoracic duct lymphocytes (TDL) develop normal levels of CD4+ T lymphocytes and survive for more than 2 years in a conventional animal house. We investigated the origin of the T cells (and B cells) in reconstituted nude recipients by transferring TDL carrying either the 3T chromosome marker or the RT6b + Igk-1b allotype or the RT7b (leucocyte-common) allotype markers. Karyotype analysis of spleen and lymph node (LN) cells from 1- to 2-year-old PVG-3T/3T-reconstituted nude recipients, stimulated in vitro with phytohaemagglutinin (PHA), unexpectedly revealed that a majority (79-97%) of dividing cells were of nude origin. However, extensive nude cell division was also recorded in PHA-stimulated cultures using mixtures of euthymic (PVG-3T/3T) and unreconstituted nude spleen cells; the assumption that only T cells divide in PHA-stimulated cultures thus appears to be erroneous. In contrast to the karyotype analysis, sIg- RT6b+ LN cells obtained from nude recipients reconstituted 2 years earlier with PVG-RT6b allotype-marked TDL, were all of donor origin with no indication of a nude-derived sIg- RT6a+ population. Igk-1b+ donor B cells were not found in these same recipients. Dual fluorescence analysis of TDL from 18- to 20-month RT7b-reconstituted nudes showed that 91-100% of CD4+ cells were donor-derived. When tested functionally, sIg- RT7b+ (donor) cells, but not sIg- RT7b- (nude-derived) cells, were able to reject skin allografts and induce local graft-versus-host (GVH) responses. Donor T cells, in contrast to CD4+ cells of nude origin, divided extensively in nude recipients; FACS-purified RT7b+ (donor) TDL retransferred from 17-month primary reconstituted nude rats, expanded further (60-100-fold) in secondary nude recipients. In conclusion, only the donor-derived CD4+ cells in reconstituted nude rats displayed T-cell function; evidence to the contrary from karyotype analysis was flawed. At no stage in their life did uninjected or T-cell reconstituted nude rats develop endogenous cells that in any way resembled CD4+ products of the thymus.

Animals↗
PubMed2000

Delayed diagnoses of Turner's syndrome: proposed guidelines for change.

OBJECTIVE: To measure the delays in diagnosis of Turner's syndrome (TS) and to propose strategies for earlier screening and diagnosis. METHODS: The medical records of 81 girls with TS were reviewed for age at diagnosis, reason(s) for karyotype analysis, and clinical features including growth failure. Delay in diagnosis was calculated as equal to age at diagnosis for children born with lymphedema and/or 2 or more of the following dysmorphic features: webbed neck, nail dysplasia, high palate, and short fourth metacarpal. For all others, delay in diagnosis was calculated as the difference between the age at which height fell below the 5th percentile and the age at which the diagnosis of TS was made. RESULTS: Lymphedema was the key to diagnosis in 97% of the girls diagnosed with TS in infancy, and short stature was the key to diagnosis for 82% of the girls diagnosed in childhood or adolescence. For girls diagnosed in childhood or adolescence, the delay in diagnosis averaged 7.7 +/- 5.4 years. Many had dysmorphic features and/or a history of lymphedema at birth, and diagnosis was made an average of 5.3 years after patients had fallen below the 5th percentile for height. By the time of diagnosis, patients were very short, averaging -2.9 SD in height. CONCLUSIONS: The diagnosis of TS is often delayed. We recommend karyotype analysis for all girls with unexplained short stature, delayed puberty, webbed neck, lymphedema, or coarctation of the aorta. Furthermore, karyotype analysis should be strongly considered for those who remain above the 5th percentile for height but have 2 or more features of TS, including high palate, nail dysplasia, short fourth metacarpal, and strabismus.

Adolescent↗
PubMed1987

Multivariate analysis of karyotypic abnormality in leukemia facilitated by numerical encoding of cytogenetic data.

A system is proposed whereby human karyotype data is expressed in quantitative terms rather than in the ISCN (1985) terminology used at present. This recoding facilitates application of multivariate analysis using standard statistical packages. As an example, karyotypes of 714 cases from 11 leukemias (Mitelman, 1983) are here recorded and subjected to discriminant analysis (SPSSx, 1983). Significant karyotypic specificity is apparent in six of the 11 FAB leukemia types. Four others show insignificant levels of specificity, while the last is equivocal. These results merely confirm present views. However, their generation by means of computerized multivariate analysis is novel, and confirms the feasibility of the approach. In this quantitative form, karyotypic data may be combined with any other data of diagnostic or prognostic value. Given such a consolidated data set, desired information concerning any aspect of neoplasia could be extracted via a single procedure.

Acute Disease↗
PubMed2005

Re-analysis of the cell line NALM-1 karyotype by GTG-banding, spectral karyotyping, and whole chromosome painting.

Chronic myelogenous leukemia (CML) is a clonal bone marrow disease with progression from a chronic phase to an aggressive blast crisis. The cell line NALM-1 was originally established by Minowada and coworkers from the peripheral blood of a patient in CML blastic crisis. A karyotype analysis of the NALM-1 cell line was performed in the 1970s. To the best of our knowledge, this karyotype was not re-analyzed by molecular cytogenetic techniques, although this cell line is the source of many molecular investigations including expression studies. To establish this cell line as a CML control in our own laboratory, NALM-1 was analyzed by GTG banding, fluorescence in situ hybridization, and spectral karyotyping. Our results differ from the original publication of Sonta and coworkers. We describe for the first time the karyotype of the NALM-1 cell line: 44,X,-X,der(7)t(7;9;15)(q10;?;q15),der(9)t(9;9)(p24;q33 approximately q34)t(9;22)(q34;q11),der(15)t(7;9;15) (?;?;q15),der(22)t(9;22)(q34;q11).

Cell Line, Tumor↗
PubMed1995

Numerical sex chromosomal abnormalities in pineal teratomas by cytogenetic analysis and fluorescence in situ hybridization.

BACKGROUND: Central nervous system teratomas are a rare subgroup of extragonadal germ cell tumors. Previous studies show ovarian mature teratomas to be karyotypically normal; those with increasing immaturity show increasing cytogenetic abnormalities. Adult testicular teratomas, regardless of maturity, most often show the i sochromosome 12p, a consistent chromosomal abnormality seen in adult testicular germ cell tumors. This study investigates the cytogenetic abnormalities of six central nervous system teratomas by the use of routine karyotypic analysis and fluorescence in situ hybridization. EXPERIMENTAL DESIGN: Karyotypic analysis was performed on two tumors. Four additional tumors were analyzed by dual-labeled fluorescence in situ hybridization. Paraffin blocks were disaggregated, and nuclei were hybridized with both biotin- and digoxigenin-labeled probes to the centromeric domains of the X and Y chromosomes, respectively. Tumor cells were scored for X and Y copy number. Tumor ploidy was determined by image analysis of the disaggregated specimens. RESULTS: The patients (five male, one female) ranged from 2 to 25 years of age. All presented with a solitary mass in the suprasellar region. A mature teratoma was 48, XXYY; an immature teratoma was 47, XXY, dir dup 11 (q12-22). Lymphocyte analysis of the second patient showed a normal constitutional karyotype. Fluorescence in situ hybridization analysis of four additional patients showed both one mature and one immature teratoma from male hosts to have 2X and 1Y signals in the majority of the cells. An immature teratoma from a male host showed 2X and 2Y signals. The above three tumors were diploid by static image analysis. An immature teratoma from a female host showed multiple (four to six) X signals in more than 70% of the cells. Ploidy analysis was unavailable for this case. CONCLUSIONS: Although patients with Klinefelter syndrome (47,XXY) and patients with 46,XY gonadal dysgenesis show an increased incidence of germ cell tumors, numerical sex chromosomal abnormalities have not been described in extragonadal teratomas. Our results support a role for sex chromosomes in the development of central nervous system teratomas.

Adult↗