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PubMed1992

Simultaneous establishment of myeloid and B-lymphoid cell lines with identical chromosome abnormalities from Philadelphia chromosome-positive chronic myelogenous leukaemia.

Two continuously growing cell lines, designated YOS-M and YOS-B, were established simultaneously from a patient with Philadelphia (Ph1) chromosome-positive chronic myelogenous leukaemia (CML) in myeloid blast crisis. Both YOS-M and YOS-B had the Ph1 chromosome and identical additional chromosome abnormalities, which were not detected in the chronic phase. Cytochemical analysis showed that YOS-M was significantly positive for peroxidase, whereas YOS-B was entirely negative. YOS-M expressed myeloid-associated antigens (CD14, CD33) as well as CD4, CD25 and CD34. The surface phenotype of YOS-M was identical to that of the leukaemic blasts found in the patient. On the other hand, YOS-B expressed mature B-cell markers, CD19, CD20, CD21 and surface immunoglobulin, but not myeloid-associated antigens. These two cell lines showed an identical rearrangement pattern of the break point cluster region on chromosome 22, but rearrangement of the immunoglobulin heavy chain gene was detected only in YOS-B. These findings provide definite evidence that CML cells still have the capability to differentiate and mature along different haematopoietic cell lineages even after blast crisis.

Aged↗
PubMed1989

Twenty-six patients with hematologic disorders and X chromosome abnormalities. Frequent idic(X)(q13) chromosomes and Xq13 anomalies associated with pathologic ringed sideroblasts.

In our experience, acquired structurally abnormal X chromosomes are found in about 1% of patients with hematologic disorders who have a chromosomally abnormal clone. Over a 10-year period, we identified 26 patients with hematologic disorders who had an acquired X chromosome abnormality. In 13 of these patients, the breakpoints were at Xq13, and in 13 the had idic(X)(q13) chromosomes. The 13 patients with Xq13 breakpoints were all older females, and 12 had pathologic ringed sideroblasts with dysmyelopoietic syndromes or a history of these syndromes. Among the 13 patients with breakpoints other than Xq13, seven were male and six were female; only one of these patients had pathologic ringed sideroblasts, and all of these patients had a variety of hematologic disorders. Xq13 may contain genes that, when altered by the formation of chromosome abnormalities, may be associated with neoplastic disorders involving pathologic ringed sideroblasts.

Anemia, Sideroblastic↗
PubMed2004

[Chromosome abnormalities of spermatozoa].

Chromosome meiotic pairing during male meiosis is a major event for chromosome segregation during anaphase I and spermatogenesis normal process. Chromosome non-disjunctions responsible for aneuploidy in male gametes can be observed during the first and the second meiotic divisions. The analysis of sperm nuclei chromosome constitution is a major and indirect tool for assessing male meiotic non-disjunctions and the genesis of chromosomal abnormalities. This evaluation has been performed initially by the human sperm/hamster oocyte fusion assay and more recently by fluorescence in situ hybridisation (FISH). Therefore, male populations with increased risk of aneuploidy for their progeny could be identified before entering an in vitro fertilization procedure, and depending on the potential risk a preimplantation or prenatal genetic diagnosis could be performed. For males with constitutional chromosome abnormalities, a specific genetic counselling could also be proposed.

Aneuploidy↗
PubMed1961

Spontaneous occurrence of chromosome abnormality in cats.

A syndrome in male cats analogous to chromatin-positive Klinefelter's syndrome in human males has been demonstrated. The physical characteristics which suggested an abnormality of chromosome number in cats were "calico" or "tortoise-shell" coat colors in a male. Buccal mucosal smears were found to have "female-type" patterns in two out of 12 such male cats screened, and these two were found to have a diploid chromosome number of 39 rather than the normal 38. Testicular biopsy performed on one revealed an abnormal pattern; no gonadal tissue was found in the other cat with an abnormal chromosome number. These findings indicate that the cat, in addition to the mouse, is available for experimental study of chromosome number abnormalities.

Aneuploidy↗
PubMed1980

Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases.

The present report describes the cytogenetic findings in 357 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. Chromosomal anomalies were found in 97 (27.2%) of the cases studied. A significantly high rate of chromosomal abnormalities was found in a population with clinical abnormalities in comparison to an unselected population (0.48-0.55%).

Adolescent↗
PubMed1992

Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: an analysis of 117 cases with review of the literature.

During a 7-year period, 117 fetal karyotypes were available from 131 genetic amniocenteses. These procedures were performed between 14 and 37 weeks' gestation for the following abnormal ultrasound findings: (1) intrauterine growth retardation (IUGR)--61 cases; (2) fetal malformation--71 cases; and (3) amniotic fluid volume (AFV) abnormality--60 cases. Chromosomal abnormalities were identified in 19 cases (16.2 per cent). Aneuploidy was 2.5 times as frequent in the presence of malformations than in their absence. No correlation was demonstrated between specific fetal malformations and specific chromosomal abnormalities. Aneuploidy was also twice as frequent in the presence of symmetrical IUGR than in its absence. No chromosomal abnormalities were found among eight cases of asymmetrical IUGR. Four cases of aneuploidy presented with isolated IUGR, three of these involving the X chromosome. The frequency of aneuploidy was the same with or without abnormalities of AFV (14.3 versus 16.4 per cent). No chromosomal abnormality was found associated with isolated AFV abnormalities.

Adult↗
PubMed1987

Oncogene amplification and chromosomal abnormalities in small cell lung cancer.

Twelve cell lines isolated from patients with small cell lung cancer have been studied for amplification of the three characterised members of the myc proto-oncogene family (c-myc, N-myc, and L-myc) and for abnormalities of chromosome 3. Ten of these lines were being studied for the first time. Ten of the 12 small cell lung cancer cell lines had amplification of one member of the myc proto-oncogene family. Amplification of c-myc was observed in only one small cell lung line--a "morphological variant". One "classic" small cell lung cancer line expressed c-myc but had no obvious amplification of the gene. N-myc and L-myc were more commonly amplified than c-myc. Chromosomal abnormalities (mainly deletions) in chromosome 3 were observed in all small cell lung carcinoma cell lines examined. When the small cell lung carcinoma lines were grouped according to "classic" or "variant" characteristics, it was found that the "classics" had deletions of the short arm of chromosome 3, whereas the "biochemical variants" had deletions of the long arm of chromosome 3. The extent of the deletions varied between cell lines. For the deletion in the short arm of chromosome 3 the minimum common region of overlap was assigned to bands 3p23-3p24.

Carcinoma, Small Cell↗
PubMed2006

Numerical chromosome abnormalities in 8-cell embryos generated from gamma-irradiated male mice in the absence and presence of vitamin E.

PURPOSE: To investigate the effects of gamma-rays on male NMRI mice, in the absence or presence of vitamin E, on abnormalities in chromosome number in 8-cell embryos generated after mating with non-irradiated female mice. MATERIALS AND METHODS: The 8 - 11 week old male NMRI mice were irradiated whole body with 4 Gy of gamma-rays alone or in combination with 200 international units (IU)/kg vitamin E administered 1 h prior to irradiation. After 4 days, they were mated at weekly intervals with superovulated, non-irradiated female mice in successive 6 weekly periods. About 68 h post coitous (p.c.), 8-cell embryos were fixed on slides using standard methods in order to screen for abnormalities in chromosome number. RESULTS: In control embryos, 8% of metaphases were aneuploid whereas in embryos generated from irradiated mice, the frequency of aneuploidy increased dramatically at all post irradiation sampling times (p < 0.001). Administration of vitamin E one hour before irradiation, significantly decreased chromosomal aberrations in all 6 groups (p < 0.05). CONCLUSION: Data indicate that gamma-irradiation affects spermatogenesis and causes DNA alterations in sperm that may lead to chromosome abnormalities in subsequent embryos. Administration of vitamin E before irradiation effectively reduced the frequency of chromosomal abnormalities. The mechanism(s) by which vitamin E reduces genotoxic effects of radiation could be via radical scavenging or antioxidative effects.

Animals↗
PubMed1989

Prognostic importance of structural chromosomal abnormalities in children with hyperdiploid (greater than 50 chromosomes) acute lymphoblastic leukemia.

Approximately one fourth of children with newly diagnosed acute lymphoblastic leukemia (ALL) have hyperdiploid (greater than 50 chromosomes) blasts and a relatively favorable prognosis. Nonetheless, a substantial proportion of these patients fail therapy. We studied 138 children (70 male, 68 female) with hyperdiploid greater than 50 ALL to assess initial clinical and cytogenetic features that might predict treatment failure. In 85 of these cases (62%), structural chromosomal abnormalities were also present; clinical and laboratory features in this group did not differ from those of the 53 cases with only numeric abnormalities. However, of the 28 failures seen at a median follow-up of 4 years, 22 occurred in cases with structural chromosomal abnormalities (P = .03 by Breslow test). In a multivariate analysis, only the presence of structural chromosomal abnormalities and male gender were independently associated with treatment failure. Structural chromosomal abnormalities in cases of ALL with greater than 50 chromosomes may define a biologically different form of leukemia characterized by increased likelihood of drug resistance.

Adolescent↗
PubMed1981

Chromosome abnormalities in newborn children. Physical aspects.

A chromosome examination was made on 11,148 consecutively live-born children: 93 had a chromosome abnormality and 192 a chromosome variant. The physical aspects of the children with chromosome abnormalities and variants were compared with those of the children with normal karyotypes. Children with aneuploid or unbalanced chromosome abnormalities were more immature or not fully developed at birth than those with normal karyotypes. Birth weight was lower in children with all types of chromosome abnormalities, including reciprocal translocations and chromosome variants. The low birth weight in children with chromosome variants was mainly due to the low birth weight of children with G variants. These children were also subject to a higher frequency of special delivery treatment. Heart disorders were increased in children with aneuploid or unbalanced chromosome abnormalities. The frequency of foetal erythroblastosis was increased in children with short Y as well as in children with acentric fragments. Neonatal mortality was higher in children with aneuploid or unbalanced chromosome abnormalities than in children with normal karyotypes.

Amniotic Fluid↗
PubMed2003

Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999.

Sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, triple X syndrome, and 47,XYY can be prenatally diagnosed and electively terminated. This investigation examined the pattern of pregnancy outcome of prenatally and postnatally diagnosed sex chromosome abnormalities in Hawaii during 1986-1999 and calculated prenatal diagnosis and subsequent elective termination rates for various factors. Data were obtained from a statewide population-based birth defects registry. The study included 205 detected sex chromosome abnormality cases of which 93 (45%) were live births, 18 (9%) late fetal deaths, 37 (18%) early fetal deaths, and 57 (28%) elective terminations. Pregnancy outcome distribution varied by type of sex chromosome abnormality. Prenatal diagnosis was reported for 132 (64%) of the cases, of which 46 (35%) were subsequently electively terminated. Eleven cases were elective terminations where the sex chromosome abnormality was diagnosed after delivery. Elective termination rates subsequent to prenatal diagnosis differed by sex chromosome abnormality, being highest for 45,X (54%), followed by 47,XXY (46%), 47,XYY (29%), and 47,XXX (17%). Although prenatal diagnosis rates increased significantly over the time period (P = 0.006), the subsequent elective termination rate declined slightly, albeit the trend was not statistically significant (P = 0.440). The prenatal diagnosis rate was highest for the 35-39-year maternal age group, although this age group did not have subsequent elective termination rates higher than other maternal age groups. Pregnancy outcome distribution and prenatal diagnosis and subsequent elective termination of sex chromosome abnormalities appeared to depend on the type of sex chromosome abnormality, year of delivery, and maternal age.

Abortion, Legal↗
PubMed1993

Chromosomal abnormalities in the newborn period.

Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate. While some of the syndromes can be suspected on clinical grounds, the clinician will need to have a high index of suspicion based on the presence of multiple abnormalities that cannot be accounted for by other causes. Chromosome analysis should be performed promptly in these cases. Cultured lymphocytes are the standard preparation at present. However, new non-isotopic hybridization techniques are becoming available that allow analysis of interphase cells, and these may become more widely used as clinical experience with them is gained. Prognosis can usually be better defined once the chromosome analysis is complete. The information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives. Empathetic counseling of the parents and family must be provided once the diagnosis is known. It must take into account the knowledge the chromosome analysis provides, be respectful of the parent's need for support, and be accurate as to prognosis of the condition diagnosed. When Down syndrome and Turner syndrome have been diagnosed, care must be taken to emphasize the positive aspects of the prognosis. When a chromosomal abnormality with an extremely poor prognosis is identified, support for withdrawal of medical intervention must be sensitively provided. The diagnosis and care of an infant with a chromosomal abnormality will challenge all of the pediatrician's diagnostic, therapeutic, and communication skills.

Adult↗
PubMed1999

Neutrophil dysplasia is not a specific feature of the abnormal chromosomal clone in myelodysplastic syndromes.

In order to study if dysplastic cells are part of the abnormal chromosomal clone in myelodysplastic syndromes (MDS) we used fluorescence in situ hybridization in combination with standard May-Grünwald-Giemsa morphology (MGG/FISH) to investigate the penetration of chromosomal abnormalities into dysplastic neutrophil granulocytes in five MDS patients with documented monosomy 7 or trisomy 8 in the bone marrow at diagnosis. Neutrophil dysplasia was defined as neutrophil granulocytes with extreme hypogranulation or with nuclear abnormalities of the pelgeroid type. In one patient all dysplastic cells were derived from the abnormal chromosomal clone, while in the other four cases only 6-43% of the hypogranulated neutrophils and 33-40% of the pelgeroid granulocytes exhibited the chromosomal marker. The results suggest that neutrophil dysplasia is not a specific feature of the abnormal chromosomal clone in MDS. It is not clear, however, if the disomic dysplastic cells were derived from a parallel MDS clone with a normal karyotype, or represent residual non-clonal, normal hematopoietic cells.

Aged↗
PubMed1990

[Chromosome abnormalities in myelodysplastic syndrome].

We performed chromosomal analysis in 18 patients with myelodysplastic syndrome (MDS). According to the French-American-British (FAB) cooperative study group and Research Group of Japanese Ministry of Welfare Classification, our cases with MDS were classified into four subtypes as follows; refractory anemia [RA], 6 cases; refractory anemia with excess of blasts [RAEB], 4; chronic myelomonocytic leukemia [CMML], 3; refractory anemia with excess of blasts in transformation [RAEB-T], 4; and refractory cytopenia [RC], 1. Thirteen patients (72%) had chromosomal abnormalities and frequently observed chromosomal abnormalities were trisomy 8, -7/7q-, 20q-, trisomy 1q and 5q-. The mean survival were as follows; RA: 22.5 months, RAEB: 13.2 months, CMML: 15 months, RAEB-T: 5.5 months. Progression to overt leukemia occurred in 5 patients (27.7%): 1 of four patients with RAEB, 1 of three patients with CMML and 3 of four patients with RAEB-T. In conclusion, chromosomal abnormalities were most frequently observed in the patient with RAEB-T who had shortest survival time among the patients with MDS. On the other hand, chromosomal abnormalities were less frequently observed in the patients with RA and they showed relatively better prognosis than the other types of MDS.

Adult↗
PubMed1989

Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli.

Clonal chromosome abnormalities were found in cultured fibroblasts from three sibs and one sporadic case with porokeratosis of Mibelli. Chromosome 3 especially involved region p12-14. This region includes the most common fragile site in humans, and the proximal region of chromosome 3 short arm is involved in a variety of neoplastic conditions. We conclude that porokeratosis of Mibelli, an autosomal dominant disorder, is associated with chromosomal instability. Porokeratosis of Mibelli is known to also be associated with increased susceptibility to malignant disease. The chromosome instability may well predispose to malignancy.

Aged↗
PubMed2003

Chromosome abnormalities in secondary pig oocytes matured in vitro.

Abnormalities of chromosome segregation during in vitro maturation of oocytes cause failure of in vitro fertilization. Oocytes collected from pig ovaries after slaughter were matured in vitro (IVM) for 30-48 h. In total, 1144 secondary oocytes were studied cytogenetically. An unreduced (diploid) chromosome set was identified in 146 spreads (12.8 %). A higher proportion of diploidy was noticed in secondary oocytes matured for 40 h and longer (15.0 %) than in the groups matured for 30 and 36 h (9.0 %). Among 998 secondary oocytes with the reduced chromosome number, 612 could be analyzed in detail. Hypohaploidy (n=19-1) was identified in 22 cells (3.59 %) and a hyperhaploid (n=19+1) set of chromosomes was identified in 15 cells (2.45 %). The rate of aneuploidy, estimated by doubling the rate of hyperhaploidy was 4.9 %. It was also found that aneuploid spreads occurred more frequently in the group of oocytes matured for 40 h and longer. Small acrocentrics were mostly found as an extra chromosome in the hyperhaploid spreads. Our study indicates that to avoid an excess of chromosomally abnormal secondary oocytes, IVM duration of pig oocytes should not exceed 40 h.

Animals↗