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PubMed1990

Detection of numerical chromosomal abnormalities in neoplastic hematopoietic cells by in situ hybridization with a chromosome-specific probe.

The feasibility of using molecular hybridization techniques for the detection of malignant clones that contain numerical chromosomal abnormalities was tested in clinical specimens from patients who had hematologic malignancies. A biotinylated DNA probe specific for chromosome 9 was used for in situ hybridization to interphase and terminally differentiated cells, and fluoresceinated avidin or avidin followed by biotinylated alkaline phosphatase was used for probe detection. In a blinded analysis of ten clinical samples from patients with hematologic malignancies and cytogenetically documented monosomy 9 or trisomy 9, the abnormality was identified correctly in each of five cases of monosomy 9 and five cases of trisomy 9. In two cases of trisomy 9, the detection of this numerical chromosomal abnormality in nuclei of segmented neutrophils permitted the deduction that some granulocytic cells were derived from the abnormal clone, but were still capable of terminal differentiation. Analysis of the position of the probe signal in such nuclei did not disclose any ordered localization of the chromosome 9 homologues with respect to segmentation. These results demonstrate that interphase cytogenetic analysis is feasible in peripheral blood and bone marrow specimens, and that this technique may be a useful adjunct to conventional cytogenetic analysis for the clinical management of patients with hematopoietic malignancies.

Bone Marrow↗

PubMed2003

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Microdeletions and microduplications, not visible by routine chromosome analysis, are a major cause of human malformation and mental retardation. Novel high-resolution, whole-genome technologies can improve the diagnostic detection rate of these small chromosomal abnormalities. Array-based comparative genomic hybridization allows such a high-resolution screening by hybridizing differentially labeled test and reference DNAs to arrays consisting of thousands of genomic clones. In this study, we tested the diagnostic capacity of this technology using approximately 3,500 flourescent in situ hybridization-verified clones selected to cover the genome with an average of 1 clone per megabase (Mb). The sensitivity and specificity of the technology were tested in normal-versus-normal control experiments and through the screening of patients with known microdeletion syndromes. Subsequently, a series of 20 cytogenetically normal patients with mental retardation and dysmorphisms suggestive of a chromosomal abnormality were analyzed. In this series, three microdeletions and two microduplications were identified and validated. Two of these genomic changes were identified also in one of the parents, indicating that these are large-scale genomic polymorphisms. Deletions and duplications as small as 1 Mb could be reliably detected by our approach. The percentage of false-positive results was reduced to a minimum by use of a dye-swap-replicate analysis, all but eliminating the need for laborious validation experiments and facilitating implementation in a routine diagnostic setting. This high-resolution assay will facilitate the identification of novel genes involved in human mental retardation and/or malformation syndromes and will provide insight into the flexibility and plasticity of the human genome.

Chromosome Aberrations↗

PubMed1988

Growth and differentiation of circulating hemopoietic stem cells with atomic bomb irradiation-induced chromosome abnormalities.

The effects of atomic bomb irradiation on hemopoietic stem cells were studied cytogenetically using single colonies derived from hemopoietic progenitor cells. The subjects studied were 21 healthy atomic bomb survivors (10 males and 11 females) in the high dose exposure group (100+ rad) with a known high incidence (10% or more) of radiation-induced chromosome abnormalities in their peripheral blood lymphocytes (stimulated with phytohemagglutinin), and 11 nonexposed healthy controls (5 males and 6 females). Colony formation by circulating granulocyte-macrophage (GM-CFC) and erythroid (BFU-E) progenitor cells was made by the methylcellulose method using peripheral blood mononuclear cells. Chromosome specimens were prepared from single colonies by our micromethod. The total number of colonies analyzed in the exposed group was 131 for GM-CFC and 75 for BFU-E. Chromosome abnormalities were observed in 15 (11.5%) and 9 (12.0%) colonies, respectively. In the control group, the total number of colonies analyzed was 61 for GM-CFC and 41 for BFU-E. None of these colonies showed chromosome abnormalities. The difference in incidence of chromosome abnormalities was highly significant by an exact test; p = 0.003 for GM-CFC and 0.017 for BFU-E. The karyotypes of chromosome abnormalities obtained from the colonies in the exposed group were mostly translocations, but deletion and marker chromosomes were also observed. In two individuals, such karyotypic abnormalities as observed in the peripheral lymphocytes were also seen in the myeloid progenitor cells. This finding suggests that atomic bomb irradiation produced a chromosome aberration on multipotent hemopoietic stem cells common to myeloid and lymphoid lineages. These stem cells, although carrying chromosome defects, are likely to have survived for more than 30 years, continuously producing progenitor cells capable of normal-looking growth and differentiation.

Adult↗

PubMed2005

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.

PURPOSE: To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma. METHOD: A case report of a family with balanced translocation without glaucoma and unbalanced translocation with congenital glaucoma. PubMed and OMIM databases were searched for reports of chromosomal abnormalities and glaucoma. RESULTS: Other case reports of congenital glaucoma with chromosomal abnormalities in this region were identified. A review of cytogenetics in southeastern Australia found nine cases involving the loss of 9p23 and 10 cases involving mosaicism for trisomy 8, but none had congenital glaucoma. A review of the literature identified reports of glaucoma and chromosomal abnormalities in regions with glaucoma loci mapped by conventional linkage analysis. These include the loci GLC1B, GLC1C, GLC1D, GLC1F, GPDS1, and RIEG2. CONCLUSION: The study of patients with glaucoma and chromosomal abnormalities may help to identify new glaucoma genes. Ophthalmologists can assist with this by requesting cytogenetic studies on congenital and developmental glaucoma cases and interacting with ophthalmic genetics researchers.

Adolescent↗

PubMed2003

Virus induced chromosomal abnormalities in Chinese hamster lung cell line and human peripheral blood leukocyte culture.

Chinese hamster lung (CHL) cells were susceptible to Herpes Simplex type-1 and Chandipura viruses; which induced chromosomal abnormalities in these cells. Chromosomal changes induced in these cells were specific. The cells were refractory to measles virus and chromosomal abnormalities were not detected after inoculation of the virus. On the other hand human peripheral blood (HPB) leukocytes were susceptible to all the 3 viruses studied and exhibited chromosomal abnormalities upon infection. The aberrations induced in HPBL cultures were random. The results suggest that a virus could induce chromosomal changes only in susceptible cells. This is the first report of comparative in vitro study on chromosomes.

Animals↗

PubMed2002

[Second trimester sonographic screening for Down's syndrome and other chromosomal abnormalities].

AIM: To assess the effectiveness of second trimester sonographic screening for Down syndrome [DS] and other chromosomal abnormalities [ChrA]. MATERIALS AND METHODS: In 1157 singleton pregnancies (15-21 weeks of gestation), including 18 with ChrA (13-DS, 5-other) an expert level detailed sonographic study was performed. The following parameters were analyzed: incidence and type of abnormal sonographic findings in chromosomally normal and abnormal fetuses, sonographic screening sensitivity and specificity (for DS and for other ChrA), positive predictive value [PPV] for DS of the most frequent sonographic markers, negative predictive value [NPV] of the normal genetic sonogram. Data were compared to those for serum screening (results from our previous studies, including all the patients from the present study). RESULTS: 77.8% of all fetuses with chromosomal abnormalities were identified by ultrasound. The detection rate for DS fetuses (69.2%) was lower and for other aneupliodies (100%)--higher than the detection rate of serum screening. All fetuses with more than one marker were chromosomally abnormal. Increased nuchal fold thickness was highly sensitive for ChrA and also--for DS (66.7% and 60% respectively). The same referred to echogenic bowel (60% and 50% respectively). Pyelectasis was highly sensitive only for DS (23.5%) while shortened femur was not (2.9%). Increased nuchal fold thickness, echogenic bowel and pyelectasis had high individual PPV for fetal DS. It was higher than the PPV of the serum screening positive test result. The NPV of the normal genetic sonogram was lower than the NPV of the screen-negative result from the serum screening. CONCLUSIONS: Second trimester expert fetal sonography is highly specific screening test, but its DS sensitivity is comparatively low. An abnormal genetic sonogram might indicate invasive prenatal testing or may be used to modify DS serum screening risk.

Chromosome Aberrations↗

PubMed2002

Microsatellite analysis in Turner syndrome: parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes.

Turner syndrome is a chromosomal disorder in which all or part of one X chromosome is missing. The meiotic or mitotic origin of most cases remains unknown due to the difficulty in detecting hidden mosaicism and to the lack of meiotic segregation studies. We analyzed 15 Turner patients, 10 with a 45,X whereas the rest had a second cell line with abnormal X-chromosomes: a pseudodicentric, an isochromosome, one large and one small ring, and the last with a long arm deletion. Our aims were: to detect X cryptic mosaicism in patients with a 45,X constitution; to determine the parental origin of the abnormality; to infer the zygotic origin of the karyotype and to suggest the timing and mechanism of the error(s) leading to the formation of abnormal X chromosomes from maternal origin. Molecular investigation did not revealed heterozygosity for any microsatellite, excluding X mosaicism in the 45,X cases. Parental origin of the single X chromosome was maternal in 90% of these patients. Three of the structurally abnormal Xs were maternally derived whereas the other two were paternal. These results allowed us to corroborate breakpoints in these abnormal X chromosomes and suggest that the pseudodicentric chromosome originated from post-zygotic sister chromatid exchange, whereas the Xq deleted chromosome probably arose after a recombination event during maternal meiosis.

Adolescent↗

PubMed2000

Chromosome abnormalities in peripheral T-cell lymphoma.

Data on chromosomal abnormalities in T-cell lymphomas are very rare as compared with those reported in B-cell lymphomas. We performed a cytogenetic study in 71 untreated patients with peripheral T-cell lymphoma, classified according to the criteria of the REAL classification. Fifty-seven patients (80.3%) had abnormal clones, whereas 9 karyotypes (12.7%) showed only normal metaphases; 5 karyotypes (7%) could not be analyzed. Recurrent numerical chromosomal abnormalities comprised +3 (21%), +5 (15.7%), +7 (15.5%), +21 (14%), -13 (14%), +8 (12.2%), +19 (12.2%), -10 (10.5%), and -Y (9% of male patients). Chromosomes involved in structural rearrangements were chromosome 6 (31.5%), mainly due to 6q deletions (19.2%), 1q (22.8%), 7q (22.8%), 9p (19.4%), 9q (19.2%), 4q (19.2%), 3q (19.2%), 2p (17.5%), 1p (17.5%), and 14q (17%). Trisomies 3 and 5 mainly correlated with angioimmunoblastic T-cell lymphoma. Isochromosome 7q, associated with trisomy 8, was present in two cases of hepatosplenic gamma/delta T-cell lymphoma. Rearrangements involving the location of T-cell receptor genes were rarely observed (chromosome band 7q35 was rearranged only in three cases, 14q11 in two cases, and 7p15 in none). No correlation could be found between the cytogenetic findings and histologic subgroup or clinical outcome in these patients. Further studies are needed to understand the significance of these abnormalities in peripheral T-cell lymphoma, and to reach a better evaluation of histologic correlations, as many differences persist between the two major classification systems, KIEL and REAL.

Adult↗

PubMed1988

Prevalence of mental retardation related to fragile X syndrome and other chromosomal abnormalities in the Republic of San Marino.

The prevalence of mental retardation related to chromosomal abnormalities, including fragile X syndrome, was studied among 2735 males aged between five and 20 years living in the Republic of San Marino. Five cases of chromosomal abnormalities were found, including one case with fragile X syndrome, with partial epilepsy and a CT scan showing a large arachnoid cyst in the posterior fossa. The prevalence of mental retardation due to chromosomal abnormality was 1.83 per 1000, and that due to fragile X syndrome was 0.37 per 1000. Although these findings relate to only a small population, they are the first from a Mediterranean area.

Adolescent↗

PubMed1990

Chromosomal abnormalities define clonal proliferation in CD3- large granular lymphocyte leukemia.

Six patients with lymphoproliferative disorder of large granular lymphocytes (LDGL) were studied for chromosomal abnormalities. When the patients were divided into two groups depending on the expression of a mature antigen of T cell lineage, CD3, two with CD3+ phenotype had a stable disease, whereas three of the four patients with CD3- phenotype had marked hepatosplenomegaly and a highly aggressive disease. Chromosomal abnormalities were detected in four of six patients, indicating a clonal proliferation of large granular lymphocytes in individual patients. In particular, chromosomal abnormalities were found in three of the four patients with CD3- LDGL, all of which had a germ-line configuration of the T cell receptor beta-chain gene. Thus, the chromosomal abnormalities provide definitive evidence for the clonal origin of the expanded cells in the CD3- LDGL.

Adult↗

PubMed1987

Chromosome abnormalities in CML.

The Ph chromosome is the hallmark of CML, where it is found in more than 90% of the cases. Cytogenetically, it usually results from a t(9;22)(q34;q11). The Ph arises in a stem cell and in chronic phase is found in all haematopoietic cell lineages, although it causes only increased granulopoiesis, and sometimes increased thrombopoiesis; furthermore blast crisis may occur in all differentiative patterns of the pluripotent stem cell. Recently, molecular investigations of Ph positive CML cases have revealed a consistent genomic recombination between two genes, BCR on chromosome 22 and the ABL oncogene. The latter is translocated from 9q34, its normal site, to the 22q- or Ph chromosome. This molecular rearrangement expresses a unique 8.5 kb BCR-ABL hybrid mRNA transcript, that encodes an altered BCR-ABL protein of approximately 210 kD with enhanced in vitro tyrosine kinase activity. The breakpoints on chromosome 22q- are clustered in a 5 kb DNA fragment, allowing their study using Southern blot analysis. Cytogenetic variant forms of the Ph translocation involving three or more chromosomes are found in about 5% of the cases. Southern blot and in situ hybridization studies have demonstrated that these variants are cytogenetically more complex than the standard t(9;22) but molecularly they show the same essential genomic recombination. This is also true for a small number of cases of Ph negative CML. Clonal progression, indicated by the presence of clonal, non-random chromosome abnormalities, in addition to the Ph is rare during chronic phase but is found in 80% of blast crisis. These additional aberrations may precede BC by weeks or months and have therefore a clear prognostic value. Ph is not restricted to CML, since it is also found in ALL (20% of adult cases) and rarely in AML. Ph in acute leukaemia is cytogenetically indistinguishable from Ph in CML, but molecular studies have shown that in 50% of the cases the breakpoint on chromosome 22 is different from the very consistent and characteristic breakpoint in CML. Nevertheless genomic recombination takes place that results in a novel ABL protein at least in some of the cases. Despite extensive cytogenetic and molecular investigations, the mechanisms underlying the formation of the Ph as well as the pathogenesis of Ph positive CML are still unknown but are now the object of intensive research.

Blast Crisis↗

PubMed1990

Chromosome abnormalities in older women by maternal age: evaluation of regression-derived rates in chorionic villus biopsy specimens.

Maternal age-specific rates of chromosome abnormalities in women undergoing chorionic villus sampling (CVS) were evaluated. These were rates derived from regression equations of the form rate = ln(b[age] + c) where age varied from 35 to 48 years; and b and c are parameters. For Down syndrome (47, + 21), b = 0.29 and c = -15.53; for other nonmosaic abnormalities, b = 0.25 and c = -14.11; and, for all abnormalities, b = 0.27 and c = -14.22. The predicted rates per 1,000 varied, respectively, from 4.2, 4.6, and 8.8 at age 35 years to 180.0, 120.0, and 300.0 at age 48 years. The predicted numbers of abnormalities were compared with those observed in an overlapping data set reported in the literature. For 47, + 21, the ratio of observed (O) to expected (E) numbers was 54/56.4 = 0.96, suggesting that these rates are at least not grossly erroneous. For non-47, + 21 chromosome abnormalities, the ratio of O to E was 66/51.1 = 1.29. The possibility of geographic variation in rates of non-47, + 21 chromosome abnormalities cannot be dismissed. Finally, if 1) the regression derived rates are correct, 2) there is no difference in selective loss of chromosome abnormalities between younger and older mothers, and 3) the ratio of rates at ages 35 and 40 years to those in the women of all ages are the same for all abnormalities at CVS as for 47, + 21 in live births, then the proportion of all women with viable conceptuses at time of CVS who have an embryo or fetus with cytogenetic abnormality is 3.8-4.4 per 1,000 conceptuses.

Adult↗

PubMed1981

Chromosomal abnormalities in acute lymphoblastic leukemia.

Chromosome abnormalities in acute lymphoblastic leukemia (ALL) and their possible clinical significance are briefly reviewed based upon the literature and 60 cases studied at the University of Minnesota. Almost all cases of ALL appear to demonstrate clonal abnormalities; the major abnormal clone is usually hyperdiploid or pseudodiploid. Among cases of non-T, non-B ALL, at least four translocations appear to be present with an increased frequency: t(9;22); t(4;11); t(11;14); and t(1;3). Patients with these translocations appear to have unique clinical and laboratory findings. Although the presence of abnormal clones does not seem to influence remission duration, the nature of the abnormality does. Patients whose leukemias demonstrate predominantly a pseudodiploid abnormal clone or a translocation have significantly shorter first remissions. Most importantly, among patients with non-T, non-B ALL, the presence or absence of translocations may separate poor responders from good responders.

Acute Disease↗

PubMed1979

Variability between and within laboratories in the analysis of structural chromosomal abnormalities.

The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different laboratories, was studied by six observers. The results were analyzed in order to determine the relative importance of inter- and intralaboratory factors in the variability of chromosomal abnormalities. In addition to the difference in the frequency of the abnormalities between the subjects studied, there were differences due to observers from different laboratories (P less than 0.01), as well as between laboratories (P less than 0.01). These results could be explained in part by insufficient agreement between observers from different laboratories and by differences in the quality of the method used.

Adult↗

PubMed1990

Human malignant melanoma. Significance of chromosomal abnormalities.

Although many reports on chromosome changes in human malignant melanoma (HMM) have been published, it is still impossible to define the significance of the different markers reported. In fact, we think that the difficulties in interpreting the chromosomal abnormalities could be due to poorly defined clinical conditions and a lack of correlation with cytological and histological analyses. To verify this hypothesis, we studied 10 cell lines obtained from 8 patients affected by cutaneous malignant melanoma that were well defined for their clinical, histologic, and cytogenetic aspects. No significant correlation was found among these parameters, and, hence, the cytogenetics findings cannot be used to determine a more detailed diagnosis or a more definite prognosis.

Chromosome Aberrations↗

PubMed2004

Are intracardiac echogenic foci markers of congenital heart disease in the fetus with chromosomal abnormalities?

OBJECTIVE: To determine whether intracardiac echogenic foci (ICEF) are markers of congenital heart disease (CHD) in fetuses with chromosomal abnormalities. METHODS: We identified all fetuses with chromosomal abnormalities undergoing targeted sonography at 17 weeks' to 21 weeks 6 days' gestation in a single perinatal center from January 1, 1994, to June 30, 2003. Offspring with and without CHD were compared for the presence or absence of ICEF. RESULTS: Two (8%) of 25 fetuses with ICEF had CHD versus 38 (33.3%) of 114 fetuses without ICEF (P = .006). Similarly, 1 (5.5%) of 18 fetuses with trisomy 21 and ICEF had CHD compared with 16 (37.2%) of 43 fetuses with trisomy 21 without ICEF (P = .009). CONCLUSIONS: Intracardiac echogenic foci in fetuses with chromosomal abnormalities, including those with trisomy 21, are not useful markers for CHD.

Adult↗

PubMed2001

Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses.

OBJECTIVE: The aim of this study was to determine the relationship between facial clefts, associated malformations and chromosomal abnormalities. STUDY DESIGN: Sonograms of 70 fetuses with cleft lip with or without cleft palate were prospectively and retrospectively evaluated in our tertiary referral center for the nature of the cleft lip or palate and for the nature of the associated anomalies. Additionally, karyotyping was performed in 63 of the 70 patients (90%). RESULTS: The frequency of additional anomalies and the mortality rate in this selected population varied with the type of cleft. None of the fetuses presenting an isolated cleft lip had additional anomalies and all survived. All fetuses presenting a median facial cleft had concurrent anomalies (particularly of the central nervous system (90%)) and a fatal outcome. Associated defects were more frequent in fetuses with bilateral clefts (72%) than in those with unilateral clefts (48%). Fetuses with a unilateral cleft lip with or without cleft palate had a better survival rate (52%) than those with a bilateral cleft lip with or without cleft palate (35%). The frequency and type of chromosomal abnormalities varied with the type of cleft. The highest rate of chromosomal abnormalities was found in fetuses with median clefts (82%). CONCLUSIONS: Although no conclusions regarding the prevalence of chromosomal or other anomalies in patients with a cleft lip with or without cleft palate in the general population could be drawn, the study revealed a strong relationship between the type of facial cleft, associated malformations, chromosomal abnormalities and fetal outcome.

Abnormalities, Multiple↗

PubMed1962

The XXXXY sex chromosome abnormality.

The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants.Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency.That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population.

Child↗