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PubMed1989

A computer program for analysis of chromosome abnormalities.

A computer program was made for the statistical analysis of a large number of abnormal karyotypes and for studies on the relationship between chromosomal abnormalities and clinical features of diseases. The program is based on the disintegration of abnormal karyotypes and the identification of types of abnormalities, chromosome numbers, and breakpoints on chromosomes. The frequencies of abnormalities could be tabulated in a given population according to type, chromosome number, and breakpoints.

Chromosome Aberrations↗

PubMed1995

Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities.

OBJECTIVES: Children with sex chromosome abnormalities (SCA) are known to be at increased risk for neuromotor, language, learning, and behavioral problems, but little is known of psychosocial adaptation of SCA adolescents. This study was conducted to evaluate psychologic characteristics of unselected SCA adolescents, including socialization, educational progress, separation from family, and incidence and severity of psychiatric disturbance. METHODS: Thirty-nine propositi identified through the screening of 40,000 consecutive Denver newborns, including boys with 47,XXY karyotypes and girls with 47,XXX, 45,X, and partial X monosomy, or SCA mosaic karyotypes, have been followed longitudinally into adolescence. Twenty-seven siblings served as controls. Between 12 and 19 years of age, all participated in blind psychiatric interviews and were administered standardized intelligence and achievement tests. RESULTS: SCA propositi demonstrated a mean IQ score 21 points lower than that of control subjects. In addition, lower mean scores were seen on achievement test results as well as lower overall psychosocial adaptation scores and increased incidence of psychiatric disturbance. Depression was the most frequent psychiatric diagnosis. Propositi were more likely to receive special education assistance in high school and were less likely to graduate from high school than were controls. Of the three nonmosaic propositi groups, the 47,XXX girls demonstrated the poorest overall psychosocial adaptation and highest degree of psychiatric disturbance. Mosaic girls were indistinguishable from control subjects. Marked variability was found among all three nonmosaic groups, with some individuals in each group demonstrating relatively strong psychosocial adaptation. CONCLUSIONS: The presence of nonmosaic sex chromosome abnormality increases the risk for impeded cognitive skills, learning abilities, and psychosocial adaptation in adolescence. The factors that allow for stronger adaptation in some of these adolescents include the presence of a stable and supportive family environment. The outlook for adaptation in unselected SCA adults remains uncertain.

Achievement↗

PubMed1991

Enlarged cisterna magna and the Dandy-Walker malformation: factors associated with chromosome abnormalities.

Thirty-three fetuses with an enlarged cisterna magna (10 mm or more) were evaluated to determine factors that might be associated with an underlying chromosome abnormality. Eighteen fetuses (55%) proved to have a chromosome abnormality, including trisomy 18 or trisomy 18 variant (12), trisomy 13 (three), Turner syndrome (one), or other rearrangements (two). Among various risk factors analyzed, the absence of ventricular dilatation correlated most strongly with a chromosome abnormality. Chromosome abnormalities were found in 17 of 22 fetuses (77%) lacking ventricular dilatation, compared with only one of 11 fetuses (9%) with ventricular dilatation (P less than .001). Other factors statistically associated (P less than .01) with an underlying chromosome abnormality included mild enlargement of the cisterna magna (10-14 mm), concurrent anomalies detected sonographically, and fetal growth retardation. However, stepwise logistic regression showed that only the absence of ventricular dilatation and the presence of concurrent anomalies were significant when multiple factors were evaluated. These observations support the utility of evaluating the cisterna magna as part of a routine anatomical survey.

Cerebral Ventricles↗

PubMed1986

Cytogenetics in nutritional megaloblastic anaemia: prolonged persistence of chromosomal abnormalities in lymphocytes after remission.

Chromosomal studies were performed in phytohaemagglutinin-stimulated cultures of lymphocytes and in bone marrow cells without culture from 115 patients with megaloblastic anaemia resulting from nutritional deficiency of folate and vitamin B12. Essentially similar chromosomal abnormalities were observed in the two cell lines. These were characterized by striking morphological aberrations such as elongation and despiralization (uncoiling or incomplete contraction), increased frequency of chromosome breakage and centromere spreading. Numerical abnormalities, chromatid exchanges and translocations were virtually absent. Autoradiographic studies of chromosomes after pulse-labelling with 3H-thymidine during the terminal 6 h of phytohaemagglutinin-stimulated lymphocyte cultures revealed a differential pattern of distribution of the radionucleotide in the chromosome of megaloblastic lymphocytes as compared to those from normal lymphocytes. Repeated chromosomal studies were done in 65 of these patients at various intervals after starting therapy with the deficient vitamins. After 48 h of therapy, chromosomal abnormalities were remarkably reduced in the bone marrow; but many of these morphological chromosomal changes (i.e. despiralization and breaks) persisted in the lymphocytes of a significant proportion of patients for variable periods up to 6-12 months after haematological remission resulting from therapy with the deficient vitamins. These abnormalities did not, however, persist after remission in those patients who had repeated episodes of infections.

Adolescent↗

PubMed2005

Chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause.

OBJECTIVE: To study the prevalence of chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause in Hong Kong. DESIGN: Retrospective study. SETTING: Clinical Genetic Service, Hong Kong. PARTICIPANTS: Chinese women with premature menopause referred for cytogenetic study from January 1983 to November 2003. MAIN OUTCOME MEASURES: Chromosomal abnormalities, FMR1 gene premutation. RESULTS: Chromosomal abnormalities were present in 15.6% of Chinese women who suffered premature menopause. X-chromosome abnormality was involved in over 80% of cases. FMR1 gene premutation was present in 0.86% of 116 cases screened for this abnormality. The predominance of X-chromosome abnormality accounted for the shorter stature, younger menopausal age, and higher prevalence of dysmorphic features among the cytogenetically abnormal patients. However, on logistic regression, no clinical feature was significantly correlated with cytogenetic abnormality. CONCLUSIONS: The prevalence of chromosomal abnormalities among Hong Kong Chinese women who suffer premature menopause was comparable with that of Caucasian and Chinese populations elsewhere. Because clinical features are poor predictors of cytogenetic abnormality, a pragmatic approach to screening is advocated. The carrier rate of fragile X premutation in these women appeared lower than that of Caucasians. Nevertheless, a search for FMR1 gene premutation, in addition to conventional chromosomal study, has important implication for prenatal diagnosis and fertility management for the extended family.

Adult↗

PubMed1984

A high frequency of structural chromosome abnormalities in a south central texas cytogenetics laboratory.

Abnormalities of chromosome number, such as the autosomal trisomies and sex chromosome aneuploidies, are considered to be sporadic events with low and constant recurrence risk across populations. On the other hand, abnormalities of chromosome structure can be generated by environmental agents and also transmitted in families and therefore may accumulate in certain populations. Evidence from several geographically diverse newborn infant screening studies and from clinical cytogenetics laboratories (including our own) supports the hypothesis that the frequency of structural abnormalities varies among populations, whereas the frequency of numerical abnormalities remains relatively constant among populations. The data from our laboratory, based on 1,201 patients over a 6-year period, suggest a two- to nearly fourfold higher frequency of structural defects over that of other populations (8.8% vs 4.2% and 2.5% of samples tested). Some of the problems associated with making comparisons among the published data sets are discussed, along with alternative explanations for the variability in the frequency of structural defects reported in different populations.

Aneuploidy↗

PubMed1988

Prognostic value of clonal chromosomal abnormalities in patients with primary myelodysplastic syndromes.

Chromosome analyses were carried out on bone marrow cells from 43 consecutive patients with primary myelodysplastic syndromes (MDS), classified according to the French-American-British (FAB) cooperative group criteria. The objective was to evaluate the prognostic value of clonal chromosomal abnormalities and of an excess of blasts for early death from acute nonlymphocytic leukemia (ANLL) and/or bone marrow failure (BMF). Patients were subdivided into two main groups: (1) refractory anemia without an excess of blasts (RAWEB), grouping patients with refractory anemia (RA) and refractory anemia with ringed sideroblasts (RARS), and (2) refractory anemia with an excess of blasts (RAEB), grouping patients with refractory anemia with an excess of blasts (RAEB) and refractory anemia with an excess of blasts in transformation (RAEBt). There were 29 patients with RAWEB and 14 with RAEB. The median time of observation was 26 months for RAWEB and 12 months for RAEB. Ten RAWEB patients (34%) and 11 RAEB patients (78%) had clonal chromosomal abnormalities. Among the ten RAWEB patients with clonal abnormalities, one (10%) died from ANLL, while of 19 RAWEB patients with a normal karyotype, two (10%) died from ANLL or BMF. The median survival for patients with RAWEB and an abnormal karyotype was not reached. In contrast, eight of the 11 RAEB patients with clonal chromosomal abnormalities (74%) died from ANLL or BMF. The median survival in this sub-group was 7 months. By using a Cox proportional hazard regression analysis, it was determined that a karyotype abnormality was not a significant predictory of survival once the contribution of the RAWEB/RAEB variable was taken into account. Being in the RAEB group was associated with a relative risk of 10.6 of dying from ANLL or BMF (beta = 2.36, standard error (SE) = 0.68, P = .0001). We conclude that classifying patients according to an excess of blasts will lead to a better prediction of survival than determining karyotype abnormality.

Adult↗

PubMed2002

Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.

Seventy-seven patients were identified with Rare recurring (excluding 11q23, 21q22, inv(16), and t(15;17)) chromosome abnormalities among 511 patients with treatment-related myelodysplastic syndromes and acute leukemia accepted from centers in the United States, Europe, and Japan. The abnormality subsets included 3q21q26 (17 patients), 11p15 (17 patients), t(9;22)(q34;q11) (10 patients), 12p13 (9 patients), t(8;16)(p11;p13) (9 patients), and an "other" subset, which included t(6;9)(p23;q34) (3 patients), t(10;11)(p13;q13 approximately q21) (3 patients), t(1;17)(p36;q21) (2 patients), t(8;14)(q24;q32) (2 patients), t(11;19)(q13;q13) (2 patients), t(1;3)(p36;q21) (2 patients), and t(3;5)(q21;q31) (1 patient). Increased karyotypic complexity with additional balanced and unbalanced rearrangements was observed in 70% of cases. Among 54 cases with secondary abnormalities, chromosome 5 and/or 7 abnormalities were observed in 59%. The most frequent primary diseases were breast cancer (24 cases), Hodgkin disease (14 cases), non-Hodgkin lymphoma (10 cases), and de novo ALL (5 cases). Thirty-seven patients received alkylating agents plus topoisomerase II inhibitors with or without radiation therapy. The presenting diagnosis was t-AML in 47 cases, t-MDS in 23 cases (10 progressed to t-AML), and t-ALL in seven cases, five of whom had a t(9;22). The median latency time from initiation of original therapy to therapy-related disease diagnosis was quite long (69 months), and the overall median survival from the date of therapy-related disease diagnosis was very short (7 months). The 1-year survival rate was 34 +/- 7%, with no significant differences among subsets. Comparison with previously reported cases showed increased karyotypic complexity and adult presentation of pediatric-associated chromosome abnormalities.

Adolescent↗

PubMed1992

[Chromosome abnormalities and prognosis in non-Hodgkin's lymphoma].

Clonal chromosome abnormalities are found in most patients with non-Hodgkin's lymphoma. The role of the chromosome abnormalities in predicting the prognosis of lymphoma patients has not been fully clarified, because of different histological classifications being used in different areas and the complexity of the chromosome abnormalities often found in lymphoma. Recent studies have shown distinct correlation of rather rare abnormalities with specific histologic and immunologic phenotypes and prognoses. Many chromosome abnormalities seem to specifically correlate with these parameters of non-Hodgkin's lymphomas, as seen in leukemias. The chromosome data also seem to support the histological observations that some lymphomas may show uneven geographical distributions.

Chromosome Aberrations↗

PubMed1990

Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.

A 13-year incidence study of sex chromosome abnormalities in Arhus, Denmark of 34,910 newborn children showed that 1 per 448 had a sex chromosome abnormality. The incidences of the most common sex chromosome abnormalities were Klinefelter syndrome, 1 per 576 boys; XYY, 1 per 851 boys; triple X, 1 per 897 girls; Turner syndrome, 1 per 2130 girls. Follow-up of children with autosomal abnormalities is not included in this study. None of the 78 surviving children with sex chromosome abnormalities was mentally retarded. All children above school age attended regular schools. Seventy-seven percent of Klinefelter, triple X, and XYY children aged 15-19 had received remedial teaching, 29% were receiving remedial teaching at the last follow-up, 32% had been in special classes at a regular school due to learning problems, and 24% were still in such classes at the last time of follow-up. There was no increased frequency of criminal activity or behavior disorders, nor was there any increased frequency of mental or physical disorders. The distribution of planned training or occupation for the 25 youths with sex chromosome abnormalities between 15 and 19 years of age was similar to that of their sibs. Testosterone undecanoate treatment has been given to Klinefelter boys from puberty and growth hormone treatment to Turner girls from the age of 7, and very small doses of estrogen were given to these girls from around the age of 12 when FSH was increasing to postmenopausal levels. Prevention or reduction of deviations in mental development from the normal range in children with sex chromosome abnormalities is possible if educational and social resources are available and the parents are well informed and counseled regularly. Information in Denmark has been given in part by publishing four booklets about triple X, XYY, Turner, and Klinefelter syndrome. Information, support, and stimulation to self-help have, to a certain extent, been given through contact groups. Parents having a child with a sex chromosome abnormality need information, counseling, and assistance. The type and magnitude of this assistance depend on the individual child, the specific sex chromosome abnormality, and the parents' own resources, psychologically, socially, and otherwise.

Aneuploidy↗

PubMed1976

A novel chromosome abnormality in human neuroblastoma and antifolate-resistant Chinese hamster cell lives in culture.

Four cell lines, SK-N-SH, SK-N-MC, SK-N-BE(2), and IMR-32, established in vitro from tumor tissue of patients with neuroblastoma were analyzed by trypsin-Giemsa banding methods. In two of the lines a large, abnormally staining chromosome region was observed. This "homogeneously staining region" (HSR) was considerably longer than any of the bands present in normal human cells and, as revealed by both G- and Q-banding, stained with an intermediate intensity. It was located on chromosomes No 6, 10, 17, or 19 of the SK-N-BE(2) cell line and on chromosome No 1 of the IMR-32 line. In concurrent studies, long HSR's were also observed in Chinese hamster sublines that had been exposed to and had developed high levels of resistance to methotrexate or methasquin and high levels of activity of target enzyme dihydrofolate reductase. For several sublines with the highest levels of enzyme activity, approximately 2% of the total cell protein was dihydrofolate reductase. Of 13 independently derived sublines with acquired resistance to antifolate, only those 7 with greater than 100-fold increases in enzyme activity consistently exhibited HSR's. These regions comprised 2-5% of the total length of the chromosome complement and were specifically localized, as demonstrated by G-banding. Analysis of chromosome replication patterns of the HSR in human neuroblastoma and in drug-resistant Chinese hamster cells by tritiated thymidine radioautography indicated that the long, abnormally staining region replicated relatively rapidly and synchronously and terminated replication before the midpoint of the S phase. The HSR thus appeared to represent a novel chromosome abnormality that may be present in cells with specialized functions. Drug-resistant Chinese hamster cells were characterized by overproduction of target enzyme, whereas human neuroblastoma cells had phenotypes of normal neuronal cells. Whether the HSR is transcriptionally active was not elucidated.

Animals↗

PubMed1996

Detection of chromosomal abnormalities in uterine leiomyoma using conventional cytogenetic method and interphase fluorescence in situ hybridization.

Seventy-nine uterine leiomyomas were examined using a conventional cytogenetic method and fluorescence in situ hybridization (FISH) for detection of chromosomal abnormalities of chromosome 12. Nine (17.6%) of 51 tumor samples examined showed chromosomal abnormalities by conventional cytogenetic analysis. Rearrangements of chromosome 12 were detected in two tumors. Other tumors showed abnormalities affecting chromosomes 1, 4, 6, 7, 10, 13, 14, and 22. For FISH, the whole-chromosome painting probe and the D12Z3 probe specific for the centromeric region were used to detect structural and numerical abnormalities of chromosome 12. Of forty-one tumor samples, six showed structural aberrations and four showed numerical aberrations of chromosome 12 by FISH analysis. Of the tumors with structural aberrations identified by FISH, two had normal karyotypes, two showed structural rearrangements of chromosome 12 cytogenetically, and two could not be analyzed because of an insufficient number of metaphases. There were no correlations between the cytogenetic data and clinical parameters. The results indicate that chromosomal abnormalities are important in the biology of at least some types of uterine leiomyomas, and that FISH is a useful complement to conventional cytogenetic analysis in the study of solid tumors.

Adult↗

PubMedDate not supplied

Chromosome abnormalities in the placenta and spontaneous abortions.

Data are presented confirming that placental chromosome abnormalities are more important than fetal chromosome abnormalities in determining fetal loss. Improved methodologies for studying chromosome abnormalities in spontaneous abortion (SAB) are presented that include results for 141 cases (gestational ages 6-24 weeks) with karyotypic study on placental as well as fetal tissue. Experience in two laboratories gave a success rate of >90% of specimens with identifiable placental tissues, an average turnaround time of 10 days for those that produced chromosome results, male-to-female ratio of >50% (indicating no impact of maternal cell contamination), and 30% of cases had chromosome abnormalities. More significantly, two cases (5% of all abnormal cases) showed an abnormal karyotype limited to the placenta. This illustrates the need to examine the placenta in cases of SAB and the importance of technical issues in laboratory studies.

Abortion, Spontaneous↗

PubMed1993

Chromosome abnormalities in patients treated with 4-hydroperoxycyclophosphamide-purged autologous bone marrow transplantation.

Autologous bone marrow transplantation (ABMT) offers potentially curative therapy for patients with acute leukemia and lymphoma, yet little information exists about the chromosome abnormalities observed in ABMT recipients. Clonal abnormalities of chromosome 1 were reported by van den Akker. We report the cytogenetic results of 55 patients who underwent ABMT between November 1987 and July 1990: acute nonlymphocytic leukemia (ANLL, 22), acute lymphocytic leukemia (ALL, eight), Hodgkin's disease (seven), lymphoma (16), other (two). ANLL patients received busulfan and cytoxan, and the others received cytoxan and total body irradiation as their preparative regimen before transplant. BM was purged ex vivo with 4-hydroperoxycyclophosphamide (4-HC) at 30-100 micrograms/ml before reinfusion to kill tumor cells. Cytogenetic analysis was performed before and after transplant. Between one and four posttransplant specimens of BM were analyzed per patient (range 36-921 days). Chromosome abnormalities were observed in 14 of 55 patients after transplant. Seven had clonal abnormalities; all were in leukemic relapse, and one karyotype had complex rearrangements. Clonal abnormalities of chromosome 1 were not observed. Seven patients had nonclonal changes, and three of these have had overt clinical relapse. Our data suggest that clonal abnormalities observed posttransplant are best explained by clinical relapse of tumor and that ex vivo marrow purging with 4-HC is not likely to induce clonal chromosome abnormalities in normal cells. Long-term observation of these patients will be required to answer that question definitively, however.

Adolescent↗

PubMed2000

Fetal heart rate in chromosomally abnormal fetuses.

OBJECTIVES: To determine the effects of chromosomal defects on fetal heart rate at 10-14 weeks of gestation. METHODS: Fetal heart rate at 10-14 weeks of gestation in 1061 chromosomally abnormal fetuses was compared to that from 25,000 normal pregnancies. The chromosomally abnormal group included 554 cases of trisomy 21, 219 cases of trisomy 18, 95 of trisomy 13, 50 of triploidy, 115 of Turner syndrome and 28 of sex chromosome abnormalities other than Turner syndrome. RESULTS: In the normal group, fetal heart rate decreased from a mean value of 170 beats per minute (bpm) at 35 mm of crown-rump length to 155 bpm at 84 mm crown-rump length. In trisomy 21, trisomy 13 and Turner syndrome fetal heart rate was significantly higher, in trisomy 18 and triploidy the heart rate was lower and in other sex chromosome defects it was not significantly different from normal. Fetal heart rate was above the 95th centile of the normal range in 10%, 67% and 52% of fetuses with trisomy 21, trisomy 13 and Turner syndrome, respectively. The fetal heart rate was below the 5th centile in 30% of fetuses with triploidy and 19% of those with trisomy 18. CONCLUSIONS: Trisomy 21, trisomy 13 and Turner syndrome are associated with fetal tachycardia, whereas in trisomy 18 and triploidy there is fetal bradycardia. Inclusion of fetal heart rate in a first-trimester screening program for trisomy 21 by a combination of maternal age and fetal nuchal translucency thickness is unlikely to provide useful improvement in sensitivity.

Chromosome Aberrations↗

PubMed1996

[Association of congenital chromosome abnormalities and malignant diseases].

Chromosome studies were carried out on 112 children with acute leukemia and 10 children with solid tumor. Acquired chromosome abnormalities were identified shown in 52% of patients with hematologic disorders (ALL 40%, ANLL 64%) and in four of 10 patients with non-hematologic disorders. Six patients had a constitutional chromosome aberration: three of them with ANLL and one child with ALL had trisomy 21, an other one with ALL had balanced translocation [t(2;7)] of maternal origin, and one child with Wilms' tumor-anirida syndrome had del(11)(p13). Two Down syndrome children with ANLL had additional acquired karyotypic changes. One of the Down's syndrome patients with ANLL M2 had t(8;21), the karyotype of the leukemic cells was: 47, XY, t(8;21) +21c. The other case with 21;21 centric fusion had hyperdiploidy, extra chromosomes were: +8, +14, +19, +20. It is very important to distinguish acquired and constitutional abnormalities in tumor cells.

Child↗

PubMed1990

Calculated risk of chromosomal abnormalities in twin gestations.

Genetic counseling concerning the risks of chromosomal abnormalities in twin gestations can be difficult; the risk of amniocentesis is weighed against that of chromosomal abnormalities in either one or both of the twins. Because most twins are dizygotic (each with a risk a priori of aneuploidy), the chance that one of the fetuses is affected is greater than would be expected for a singleton. Only three possibilities would result in either one or both twin's being affected: 1) dizygotic twins with one fetus affected, 2) dizygotic twins with both fetuses affected, and 3) monozygotic twins with both fetuses affected. Using existing tables of estimated risks of chromosomal abnormalities in singleton gestations and mathematically derived formulas, we created tables defining the age-related risks of chromosomal abnormalities in twin gestations. According to these tables, a patient at 33 years of age with a twin gestation has a risk of Down syndrome in at least one of her twins equivalent to that of a 35-year-old with a singleton. Prenatal genetic testing should be considered for women with twins at a younger age than the traditional 35.

Adult↗

PubMed2000

Analysis of spermatozoa from seven ICSI males with constitutional sex chromosomal abnormalities by fluorescent in situ hybridization.

PURPOSE: The objective was to estimate the risk for subfertile males with a constitutional sex chromosomal abnormality of transmitting such a chromosome abnormality to their children, conceived by intracytoplasmic sperm injection (ICSI). METHODS: Semen samples were obtained from seven severely oligospermic ICSI candidates. Six of them had a numerical sex chromosomal abnormality, including mosaic 45,X/46,XY, mosaic 46,XY/47, XXY, 47,XXY (Klinefelter's syndrome), and 47,XYY. One male had a structural abnormality, namely, an inversion of the Y chromosome. The semen was studied by three-color fluorescent in situ hybridization (FISH) with probes specific for chromosomes 18,X, and Y. RESULTS: Chromosomal aneuploidy rates of any of the three chromosomes were significantly higher than the aneuploidy rates observed in three control samples but comparable to the rates observed in 10 ICSI candidates with oligoasthenoteratozoospermia (OAT) and a normal constitutional karyotype. CONCLUSIONS: Our data indicate that males with (mosaic) sex chromosomal abnormalities have no higher risk of producing offspring with a sex chromosomal abnormality by ICSI than OAT males with a normal karyotype.

Aneuploidy↗