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PubMed1994

Prognostic value of chromosomal abnormalities in follicular lymphoma.

The t(14;18)(q32;q21) chromosomal translocation is observed in more than 75% of cases of follicular lymphoma. Several additional chromosomal abnormalities, which might contribute to tumor progression, have also been described. However, prognostic implications of cytogenetic features in follicular lymphoma have not been clearly established. In an attempt to correlate cytogenetic findings with clinical outcome, we have studied survival and risk of transformation into a more aggressive lymphoma in 66 follicular lymphoma patients from whom a lymph node had been karyotyped at the time of diagnosis. A t(14;18) was the most common abnormality, having been observed in 51 patients (77%), but this showed no correlation with clinical outcome. Seventeen other recurrent numerical or structural abnormalities were identified in more than 10% of the patients. A high percentage of cells (> or = 90%) with abnormal metaphases and a number of chromosomal breaks higher than 6 were associated with a poor survival (P > .01 each). Patients with an abnormality of chromosome region 1p21-22 (P < .01), of 6q23-26 (P < .001), or of the short arm of chromosome 17 (P < .001) had a significantly shorter survival in univariate analysis. Multivariate analysis identified a break at 6q23-26 (P = .01) and 17p (P = .01) as independent prognostic factors in this population. The risk of transformation into a diffuse large-cell lymphoma was significantly higher in patients with either a 6q23-26 (P < .001) or a 17p (P < .01) abnormality. Chromosomal analysis of follicular lymphoma at the time of diagnosis can thus provide important information about the risk of transformation and survival.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed2006

Meiotic chromosome abnormalities in human spermatogenesis.

The last few years have witnessed an explosion in the information about chromosome abnormalities in human sperm and the meiotic events that predispose to these abnormalities. We have determined that all chromosomes are susceptible to nondisjunction, but chromosomes 21 and 22 and, especially, the sex chromosomes have an increased frequency of aneuploidy. Studies are just beginning on the effects of potential mutagens on the chromosomal constitution of human sperm. The effects of pesticides and cancer therapeutic agents have been reviewed. In the last decade, there has been a great impetus to study chromosome abnormalities in sperm from infertile men because the advent of intracytoplasmic sperm injection (ICSI) made it possible for these men to father pregnancies. A large number of studies have demonstrated that infertile men have an increased frequency of chromosomally abnormal sperm and children, even when they have a normal somatic karyotype. Meiotic studies on the pachytene stage of spermatogenesis have demonstrated that infertile men have impaired chromosome synapsis, a significantly decreased frequency of recombination, and an increased frequency of chromosomes completely lacking a recombination site. Such errors make these cells susceptible to meiotic arrest and the production of aneuploid gametes.

Aneuploidy↗

PubMed1990

Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review.

Nine cases of congenital cardiovascular malformations (CCVM) with associated unbalanced structural chromosomal abnormalities were ascertained in a population-based study of heart defects, constituting 0.4% of the 2,103 cases of CCVM in the Baltimore-Washington Infant Study (BWIS). This represents a four-fold increase over the general population rate. In an effort to determine possible phenotype/karyotype correlations, the literature was searched for cases with similar karyotypic abnormalities. This comparison of 223 literature cases of karyotypic abnormalities with nine similar cases ascertained by heart malformation has provided the opportunity to review cardiac defects reported in cases of structural abnormalities of chromosomes 1, 3, 7, 8, 9, 10, 11, 15, and 18. The most common cardiac malformation present in the chromosomal cases was ventricular septal defect (VSD) (39%); similarly VSD is the most common CCVM among children with heart defects, although it is the primary defect in only 20% of the BWIS cases. Among all heart defects in the BWIS, atrial septal defect (ASD) represents 5.5% of all cases, but in cases of 8p duplication, ASD is present in 41%. In addition, 40% of cases of 9p duplication had an ASD. Similarly, 35% of cases of 11q duplication had an ASD. While the suggestion of specific karyotype/phenotype association is premature, information on additional cases might clarify the possibility that genetic determinants related to septum formation may reside on chromosome 8, 9, and/or 11. The variety of chromosomal abnormalities in cases with ventricular septal defect indicates one type of genetic heterogeneity that may be involved in this very common heart defect.

Case-Control Studies↗

PubMed2006

Complex secondary chromosome abnormalities in advanced stage anaplastic large cell lymphoma of children and adolescents: a report from CCG-E08.

Among pediatric non-Hodgkin lymphomas, one of the most distinctive types is anaplastic large cell lymphoma (ALCL). Specific chromosomal abnormalities are associated with prognosis in childhood acute lymphoblastic leukemia, but chromosome abnormalities have not been evaluated for prognostic value in pediatric ALCL. For Children's Cancer Group protocol CCG-E-08 Etiologic Study of Non-Hodgkin Lymphoma in Childhood, three patients were enrolled with cytogenetic analysis of ALCL and simultaneously enrolled on treatment protocol CCG-552. Pathology material and karyotypes at initial diagnosis underwent central review. Demographics included ages of 9, 12, and 14 years, and a male/female ratio of 1:2. All patients had advanced disease (stage III). Disease progressed or relapsed in two patients, and one died. Chromosomal abnormalities, including t(2;5)(p23;q35), the ALK/NPM fusion gene, and complex karyotypes with multiple additional abnormalities, were identified in all three patients. In two patients with progressive disease or relapse, additional chromosomal abnormalities at 1q21 and 10q24, possibly involving MCL1 and HOX11/TCL3, respectively, may have contributed to worse outcome. Pediatric ALCL cases frequently have complex karyotypes and usually involve ALK/NPM translocations in this limited study. Additional chromosome abnormalities may be involved in the pathogenesis of ALCL. Further studies are warranted in larger cohorts of children and adolescents with ALCL.

Adolescent↗

PubMed2004

Prospective evaluation of a first trimester screening program for Down syndrome and other chromosomal abnormalities using maternal age, nuchal translucency and biochemistry in an Australian population.

BACKGROUND: A combination of maternal age and ultrasound assessment of the nuchal translucency (NT) has been used in the first trimester to screen for chromosomal abnormality. In the United Kingdom, the addition of NT screening was shown to be beneficial. AIMS: To report the sensitivity of combined first trimester biochemistry and ultrasound screening for Down syndrome in an Australian private practice specialising in obstetric ultrasound. METHODS: A prospective study in a private obstetric ultrasound practice. Over 22 months, 2121 patients were screened and data was analysed for sensitivity (detection) and false positive rates for all chromosome abnormalities. RESULTS: There were 17 chromosomal abnormalities, five of which were Down syndrome. Using maternal age alone or age and biochemistry, four of the Down syndrome cases were detected for a 29 and 19% false positive rate, respectively. Using age and NT or age, NT and biochemistry, all the Down syndrome cases were detected, for a false positive rate of 5.7 and 7.2%, respectively. The difference in detection rates for Down syndrome or other chromosomal abnormalities, using the four screening methods, did not reach statistical significance. However, the false positive rates in screening methods without ultrasound to assess the NT was significantly higher (P < 0.01). CONCLUSIONS: A combination of maternal age, NT and maternal serum biochemistry gives a high detection rate for both trisomy 21 and other chromosomal abnormalities. Down syndrome screening using either maternal age alone or age in combination with first trimester biochemistry conferred screen positive rates significantly higher than when combined with NT.

Adolescent↗

PubMed1983

Register of chromosomal abnormalities in Queensland.

The development and use of the computer-aided retrieval of karyotypes (CAROK), a register of chromosomal abnormalities in Queensland, is described. The six independent cytogenetic laboratories serving the population of 2.2 million contribute data to the register which provides total population information on the occurrence of chromosomal abnormalities, without selection. CAROK policy on confidentiality, security, access, and safety of data is described in detail. A cytogenetic register such as this ensures a reliable permanent file of results, facilitates research, and provides a data base which will enable questions of clustering or secular trends to be answered efficiently. The register is complete for the years 1976-1981, and contains information on 880 consecutive abnormal cases; in this sense, the data constitute an unselected six-year series of diagnosed chromosomal abnormalities in Queensland. These figures show an average incidence figure (over a six-year period) for newly diagnosed cases of chromosomal abnormality of 6.61/100 000 general population per year.

Aneuploidy↗

PubMedDate not supplied

Elevated second-trimester maternal serum inhibin A levels in Asian pregnancies with fetal down syndrome and other chromosomal abnormalities.

SUBJECTS: To evaluate second-trimester maternal serum inhibin A levels in Asian pregnancies with fetal Down syndrome and other chromosomal abnormalities. METHODS: Inhibin A level was measured from the serum samples of 25 chromosomally abnormal pregnancies, including 15 cases of Down syndrome, 4 cases of trisomy 18, 1 case of trisomy 13, and 5 cases of sex chromosome aneuploidies (4 cases of 47,XXY and 1 case of 45,X) and in a cohort of 150 controls during the second trimester of pregnancy. RESULTS: The multiple of median levels of Down syndrome (1.74) and other chromosomally abnormal pregnancies (2.03) are significantly higher than that of normal pregnancies (p = 0.002 and p = 0.024, respectively). Only 3 of 15 (20%) Down syndrome cases had inhibin A levels at or above the 95th centile of the control values. CONCLUSIONS: Inhibin A levels are raised in Asian women affected with fetal Down syndrome and sex chromosome abnormality. In spite of the poor discrepancy of inhibin A, it might be a potential marker for Down syndrome screening in Asians.

Adult↗

PubMed1988

Sister chromatid exchange and chromosome abnormalities in uremic patients.

Chronic renal failure heightens the risk of malignancy. We therefore examined lymphocytes from 44 uremic patients and 24 normal controls for chromosome abnormalities and sister chromatid exchange (SCE) rate. This is the first report of SCE in uremia. Uremia was found to increase structurally abnormal chromosomes and elevate the rate of SCE. These cytogenetic changes in uremia may play a role in the heightened risk of cancer.

Adult↗

PubMed2005

Fetal trunk and head volume in chromosomally abnormal fetuses at 11+0 to 13+6 weeks of gestation.

OBJECTIVE: To examine the pattern of growth in chromosomally abnormal fetuses at 11+0 to 13+6 weeks of gestation and compare the trunk and head volume to crown-rump length (CRL) in defining the growth deficit in such fetuses. METHODS: The fetal trunk and head volume was measured using three-dimensional (3D) ultrasound in 140 chromosomally abnormal fetuses at 11+0 to 13+6 (median 12) weeks of gestation, and the values were compared to 500 chromosomally normal fetuses. In each chromosomally abnormal fetus, the observed fetal trunk and head volume was subtracted from the expected mean (delta value) of the chromosomally normal fetuses of the same gestational age, and this difference was expressed as a percentage of the appropriate normal mean. The Mann-Whitney U-test was used to determine the significance of differences between the chromosomally normal and abnormal groups. RESULTS: In trisomy 21 (n=72) and Turner syndrome (n=14) fetuses, compared to chromosomally normal fetuses, the CRL for gestation was similar (P=0.335 and P=0.317, respectively), but the fetal trunk and head volume was about 10-15% lower (P<0.001 and P=0.004, respectively). In trisomy 18 (n=29), trisomy 13 (n=14) and triploidy (n=11), the deficit in volume was about 45% (P<0.001), whereas the deficit in CRL was less than 15% (P<0.001). CONCLUSIONS: In the quantification of the degree of early growth impairment in chromosomally abnormal fetuses, measurement of the fetal trunk and head volume using 3D ultrasound may be better than measurement of CRL.

Case-Control Studies↗

PubMed1997

Counselling implications of chromosomal abnormalities other than trisomy 21 detected through a maternal serum screening programme.

OBJECTIVE: To identify counselling requirements, we reviewed the frequency and type of non-trisomy 21 chromosome abnormalities found at amniocentesis after maternal serum screening for Down's syndrome. DESIGN: The study involved a review of the cytogenetic results of amniocenteses performed because of a raised maternal serum screening risk. SETTING: The maternal serum screening and amniocenteses were performed at hospitals in the Yorkshire region. SAMPLE: 1715 amniocenteses were performed as a result of a raised maternal serum screening risk for the period 1990 to 1993. METHODS: The cytogenetic results were classified into the main categories of numerical and structural chromosomal abnormalities. MAIN OUTCOME MEASURES: The nature and frequency of abnormal cytogenetic results were identified in which parental samples were required in order to determine if the abnormal finding was de novo or familial and/or for which specialist genetic counselling was required. RESULTS: Sixty-nine pregnancies of 1715 amniocenteses were identified with a chromosomal abnormality (4.0%): 35 (2.0%) with trisomy 21 and 34 (2.0%) with another chromosomal abnormality. For 20 of these 34 abnormalities, parental karyotypes were required and in 29 of the 34 specialist genetic counselling was required. CONCLUSIONS: Women undergoing maternal serum screening and, in particular, those proceeding to amniocentesis, should be informed that there is an equal chance that a chromosomal abnormality other than trisomy 21 will be found at amniocentesis, the nature of which usually requires parental samples and specialist counselling.

Amniocentesis↗

PubMed2000

HPV-16 E2 gene disruption and sequence variation in CIN 3 lesions and invasive squamous cell carcinomas of the cervix: relation to numerical chromosome abnormalities.

AIM: To test the hypothesis that, because the human papillomavirus (HPV) E2 protein represses viral early gene transcription, E2 gene sequence variation or disruption could play a part in the induction of the numerical chromosome abnormalities that have been described in squamous cervical lesions. METHODS: The integrity and sequence of the E2 gene from 11 cervical intraepithelial neoplasia (CIN) grade 3 lesions and 14 invasive squamous cell carcinomas, all of which contained HPV-16, were analysed by the polymerase chain reaction (PCR). The E2 gene was amplified in three overlapping fragments and PCR products sequenced directly. Chromosome abnormalities were identified by interphase cytogenetics using chromosome specific probes for chromosomes 1, 3, 11, 17, 18, and X. RESULTS: E2 gene disruption was present in significantly more invasive carcinomas (eight of 14) than CIN 3 lesions (one of 11) (p = 0.03). No association was found between E2 disruption and the presence of a numerical chromosome abnormality. The E2 gene from the non-disrupted isolates was sequenced and wild-type (n = 5) and variant (n = 11) sequences identified. Variant sequences belonged to European and African classes and contained from one to 15 amino acid substitutions. Although numerical chromosome abnormalities were significantly more frequent in invasive squamous cell carcinoma than CIN 3 (p = 0.04), there was no significant relation between the presence of sequence variation and either histological diagnosis or chromosome abnormality. CONCLUSIONS: These data do not support the hypothesis that E2 gene disruption or variation is important in the induction of chromosome imbalance in these lesions. However, there is a relation between E2 gene disruption and the presence of invasive disease.

Amino Acid Sequence↗

PubMed1983

Chromosome abnormalities and gamete production in man.

The averaged incidence of chromosome abnormalities from samples of infertile males has been estimated to be approximately 5%, of which 4% are sex chromosome abnormalities and 1% autosomal abnormalities. Variations in the frequencies among different samples are probably due to ascertainment bias. The autosomal abnormalities consist mainly of balanced translocations which are found with a frequency of nine per thousand. Most translocations are Robertsonian ones and most of them are familial. The reasons why a balanced translocation interferes with the normal meiotic process are discussed. The effects on female fertility of numerical and structural aberrations of the X chromosome are discussed with special attention to the deficiencies of the short and long arm of the X chromosome. Several of these deficiencies are secondary to X/autosome translocations transmitted by the mother of the probands. It is concluded that the function of the abnormal X chromosome rather than the loss of specific segments is probably correlated with the lack of gamete production.

Chromosome Aberrations↗

PubMed1990

Chromosomal abnormalities in myelodysplastic syndromes and acute myeloid leukemia.

Clonal chromosome abnormalities are found in more than half the patients with hematologic malignancies. Karyotype is an independent prognostic factor in these patients. Cytogenetic findings correlate significantly with morphologic, immunologic, and clinical features as well as response to treatment, remission duration, and survival. The number of different cytogenetic abnormalities is enormous; however, many cytogenetic findings frequently occur in a given disease (e.g., abnormalities of 5 or 7 in 75% to 90% of patients with therapy-related AML). Some abnormalities are found only in myeloid malignancies, for example, the t(8;21)(q22;q22) and rearrangements of chromosome 16q22, both of which have a good prognosis. Other abnormalities usually are found in both myeloid and lymphoid malignancies, for example, the t(4;11)(q21;q23) and t(9;22)(q34;q11), both of which have a poor prognosis. The Human Gene Mapping Conferences have compiled much cytogenetic data and produced several interesting correlations in myeloid malignancies: rearrangements of 3q21-26 with myeloid proliferations associated with environmental exposure (similar to abnormalities of 5q, 7q, 12p, and 17q), aberrations of 12p, 11q13 and 11q23 with both myeloid and lymphoid disorders, and the lack of myeloid involvement and abnormalities of chromosomes 14 and 18. In conclusion, cytogenetic analysis of neoplastic cells at diagnosis for patients with MDS, AML, and SAML is required for appropriate diagnosis and treatment. The use of chromosome abnormalities to separate patients into high- and low-risk groups eventually may allow us to be more effective in selecting curative therapy.

Bone Marrow↗

PubMed1997

The effects of Down syndrome and other chromosomal abnormalities on survival and management in oesophageal atresia.

Recognisable chromosomal abnormalities occur in over 5% of patients with oesophageal atresia (OA). In a review of 670 patients with OA chromosomal abnormalities were identified in 35 (5.2%), of whom 16 had trisomy 18 and 12 had trisomy 21. In patients with trisomy 18, the diagnosis should be suspected on clinical grounds and confirmed on analysis of chromosomes; no active treatment of the OA is justified because of the extremely poor prognosis. In Down syndrome (DS) 50% will have pure OA with no tracheo-oesophageal fistula. In addition, many of these infants will have associated anomalies typical of those normally seen in DS, eg., Hirschsprung's disease, duodenal atresia, and congenital heart disease. Despite treatment, OA with DS has a high mortality.

Abnormalities, Multiple↗

PubMed2002

[Genetic view of the development of the human embryo--the importance of chromosome abnormalities].

Normal embryonic and fetal development requires a diploid chromosome set consisting of a haploid maternal and a haploid paternal chromosome set. Chromosome abnormalities in the zygote are not a rare event, however. Moreover postzygotically different types of aberrations can occur, with different effects on embryonic development. As a consequence embryonic development can be arrested at a very early stage. Other consequences are the impairment of the implantation rate, early spontaneous abortions and developmental abnormalities in newborn children. The results of the analysis of the chromosomal constitution of early embryos show the impact of specific chromosome abnormalities on embryonic development. Normal development on the basis of a normal chromosome set seems to be only one of several possible developments after fertilization.

Chromosome Aberrations↗

PubMed1987

Y chromosome abnormality in human stomach and lung cancer.

Sex chromosome abnormalities in human stomach and lung cancers from 33 male patients were examined by Southern blot hybridization with pDP34 DNA probe, which recognizes X and Y chromosome-linked restriction fragment length polymorphisms (RFLPs). Contrary to the recent cytogenetic observations showing high incidence of loss of the Y chromosome in solid tumors, loss of the Y chromosome was observed in only 3 of 21 stomach cancers and 2 of 12 lung cancers. Gain of the Y chromosome was found in one of 12 lung cancers, but not in any of the stomach cancers. No X chromosome abnormality was found in any of these 33 stomach cancers and lung cancers.

Humans↗

PubMed1995

Maternal urinary beta-core fragment of hCG/creatinine ratios and fetal chromosomal abnormalities in the second trimester of pregnancy.

Our aim was to evaluate the potential value of the ratio of the maternal urinary beta-core fragment of human chorionic gonadotropin (beta C-hCG) to creatinine (Cr) in discriminating between normal pregnancies and pregnancies associated with fetal chromosomal abnormalities. We hypothesized that pregnancies with fetal chromosomal abnormalities had abnormal quantities of beta C-hCG in the urine. The aims of the present study were to investigate retrospectively whether maternal urinary ratios of beta C-hCG/Cr are abnormal in women carrying fetuses with chromosome aberrations and to determine normative median values and a reference range for beta C-hCG/Cr between 14 and 19 weeks' gestation. Maternal urinary beta C-hCG and Cr concentrations were measured in 150 healthy women from 14 to 19 weeks and compared with ten cases of fetal chromosomal abnormalities matched for gestational age. The preliminary cut-off points corresponded to 0.29 multiple of the normal median (MOM) and 2.83 MOM, which were equivalent to the tenth and 90th centiles of the normal range. Of ten cases of fetal chromosomal abnormalities, one out of one (100 per cent) case with trisomy 18 and three of four (75 per cent) cases of variant 9 chromosomes had low beta C-hCG/Cr (< or = 0.29 MOM). One of five (20 per cent) cases with Down syndrome had elevated beta C-hCG/Cr (> or = 2.83 MOM). Urinary beta C-hCG/Cr ratios obtained in the second trimester may be useful for improved detection efficiency of Down syndrome, trisomy 18, and inversion of chromosome 9. Second-trimester maternal urinary beta C-hCG/Cr should be investigated further as a potential marker for fetal chromosome anomalies.

Chorionic Gonadotropin↗

PubMed1988

[Chromosome abnormalities in early cancers].

The chromosome changes in early cancer had been thought to be difficult to analyse because of the technical reasons and of the complex nature of the chromosomal abnormalities as compared with hematological diseases having simple diploid karyotype. Recent advances allowed to analyse the chromosomes of solid tumors by the improved technics for cell disaggregation, short term culture, and chromosome banding. Although some advanced solid cancers kept the simple near by diploid chromosomal features, many tumors such as cervical cancers reveal complex chromosomal changes already in the pre-invasive stage. Much more data must be collected to evaluate the role of chromosomal changes in benign and early malignant tumors.

Chromosome Aberrations↗