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PubMed1997

Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses.

Pathological examination of the heart and great arteries was performed in 112 chromosomally abnormal fetuses after surgical termination of pregnancy at 11-16 weeks of gestation. The chromosomal abnormalities were diagnosed by chorion villus sampling which was carried out because screening of the pregnancies by a combination of maternal age and fetal nuchal translucency thickness at 10-14 weeks of gestation identified them as being at increased risk. The group consisted of 60 fetuses with trisomy 21, 29 with trisomy 18, 17 with trisomy 13 and 6 with Ullrich-Turner syndrome. The most common cardiac lesion seen in trisomy 21 fetuses was an atrioventricular or ventricular septal defect. Trisomy 18 was associated with ventricular septal defects and/or polyvalvular abnormalities. In trisomy 13, there were atrioventricular or ventricular septal defects, valvular abnormalities, and either narrowing of the isthmus or truncus arteriosus. Ullrich-Turner syndrome was associated with severe narrowing of the whole aortic arch. In all four groups of chromosomally abnormal fetuses, the aortic isthmus was significantly narrower than in normal fetuses and the degree of narrowing was significantly greater in fetuses with high nuchal translucency thickness. It is postulated that narrowing of the aortic isthmus may be the basis of increased nuchal translucency thickness in all four chromosomal abnormalities.

Abnormalities, Multiple↗
PubMed1998

del(17)(q25) in a patient with hairy cell leukemia: a new clonal chromosome abnormality.

Clonal chromosomal aberrations are reported in about 25% of the patients with hairy cell leukemia (HCL). No consistent cytogenetic abnormality has been described in HCL; most of the chromosomal changes found have been deletions and inversions, with the rare occurrence of translocations. While most of the chromosomal aberrations in HCL are common to the ones found in B cell chronic lymphocytic leukemia and other B cell lymphoproliferative disorders, there are also certain chromosomal changes that are not found in other B cell lymphoproliferative disorders. We present here a 63-year-old male patient with hairy cell leukemia with the clonal del(17)(q25), which has not previously been reported in HCL.

Chromosome Aberrations↗
PubMed1996

Translocation (X;10)(p10;p10): A rare but nonrandom chromosomal abnormality in acute leukemia of myeloid differentiation.

Structural abnormality of chromosome X is uncommonly seen in patients with acute leukemia, and translocation between chromosome X and 10 is an exceedingly rare event. In this report, we describe the occurrence of t(X;10)(p10;p10) in two patients with acute leukemia, one with acute monocytic leukemia and the other with myeloblastic relapse arising from bilineage leukemia. To our knowledge, similar chromosomal abnormality has been reported only twice in the literature.

Adult↗
PubMed2001

Fetal transcerebellar diameter and chromosomal abnormalities.

OBJECTIVE: To evaluate the association between chromosomal abnormalities and fetal cerebellar size. DESIGN: A retrospective cross-sectional study. METHODS: Ultrasound measurements of transcerebellar diameter, head and upper-abdominal circumference from 88 fetuses with chromosomal abnormalities were analyzed. Abnormalities included trisomy 21 ( n = 23), trisomy 18 ( n = 17), 'other numerical chromosomal abnormalities' ( n = 9), sex chromosomal abnormalities ( n = 9), mosaicism ( n = 12), balanced translocations ( n = 9) and unbalanced translocations ( n = 9). Multiple regression analysis was performed to compare transcerebellar diameters between the reference group and each of the subsets of chromosomal abnormalities and between trisomies 18 and 21. Also, in the latter two subsets, comparison of the transcerebellar diameter before and after 25 weeks of gestation was carried out. RESULTS: Fetal transcerebellar diameter was reduced in relation to gestational age but was normal when control was made for fetal size in all chromosomal subsets, except for balanced translocations. The transcerebellar diameter in trisomy 18 was significantly smaller than that in trisomy 21. No difference in cerebellar size was found when comparing the gestational age period before and after 25 weeks in each of these two subsets. CONCLUSIONS: A reduction in fetal transcerebellar diameter was demonstrated in all chromosomal abnormalities with imbalance of genetic material. Cerebellar hypoplasia was more severe in trisomy 18 than in trisomy 21. The degree of reduction in fetal transcerebellar diameter in these subsets seems to be independent of the time period during which the transcerebellar diameter measurement was performed.

Adult↗
PubMed1992

Chromosome abnormalities and oncogenesis in cat leukemias.

Chromosome abnormalities are found in feline leukemia virus (FeLV)-infected tumor cells as well as in tumor cells free of the virus. Three cell lines derived from tumors in the domestic cat (Felis catus), two of thymic origin and one of multicentric lymphoma origin, were analyzed cytogenetically to determine whether the FeLV virus was associated with chromosomal abnormalities in these tumor cell lines. One thymic tumor and the multicentric lymphoma were FeLV infected. The other thymic tumor cell line was FeLV-free. The normal diploid number in the domestic cat is 38. All three cell lines had numerical chromosome abnormalities with modal numbers of 37, 38 (pseudodiploid), and 39, respectively and had consistent structural chromosome abnormalities. Three markers in the virus-free cell line (S markers) were shared with one or the other of the virus-positive cell lines. The two FeLV-positive cell lines did not have S markers in common. The finding of chromosome abnormalities in both the virus-infected and the virus-free cell lines suggests that these abnormalities may be important in oncogenesis. The FeLV virus could not be considered the only causative agent of the abnormalities observed.

Animals↗
PubMed1976

Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities.

Twenty-eight cases of chromosomal abnormalities were ascertained using G-banding. Seventeen of these had structural abnormalities of a complex nature and are discussed in detail. An independent assessment of chromosome abnormalities was carried out using sequential Q- and R-banding. In no case was there a difference in the identification of the abnormal chromosome, but in two cases a more precise localization or definition of the abnormality was obtained from the R-banded cells. In one case the initial diagnosis of the terminal deletion was altered to interstitial deletion; in the second case a break point in one chromosome involved in a reciprocal translocation was found to be in a different band by R-banding. In several others better delineation of break points or confirmation of complex abnormalities was obtained from the R-banded cells. R-banding was especially helpful in the localization of break points because of the color differentiation obtained with acridine orange. Q-banding was not found to have added any additional information. It was concluded from this study that the use of both G-banding and R-banding in complex abnormalities proved worthwhile.

Chromosome Aberrations↗
PubMed2004

Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986-1999.

Chromosomal abnormalities are more common in the presence of structural birth defects. However, much of the literature have only provided chromosomal abnormality rates for one or a few structural birth defects at a time. This study calculated the chromosomal abnormality rates for a number of structural birth defects using data from the Hawaii Birth Defects Program (HBDP) for deliveries during 1986-1999 and evaluated the impact of exclusion of cases with chromosomal abnormalities when calculating birth prevalence. The chromosomal abnormality rates were highest for endocardial cushion defect (40%) and omphalocele (27%), while no chromosomal abnormalities were reported for pyloric stenosis, persistent cloaca, and deficiency of lower limbs. The majority of chromosomal abnormality rates fell within a certain range, with 32 (63%) of the birth defect categories having chromosomal abnormality rates of 5-15%. The chromosomal abnormality rates also tended to be higher for multiple than for isolated cases. For three of the structural birth defects (ventricular septal defect, atrial septal defect, endocardial cushion defect), the birth prevalence of the defect, when cases with a chromosomal abnormality were excluded, was significantly lower than the birth prevalence that included those cases. Chromosomal abnormality rates varied by type of structural birth defect and presence of other major structural birth defects. For at least several structural birth defects, exclusion of cases with chromosomal abnormalities significantly underestimated the birth prevalence. This underestimation may be important, depending on the purpose of the analysis.

Chromosome Aberrations↗
PubMed1989

Chromosome abnormalities in early pregnancy analyzed by direct chromosome preparation of chorionic villi.

Chorionic villi chromosome analysis was performed on 1,186 cases of induced abortion between the 5th and 11th week of gestation. The total incidence of major chromosome abnormalities, including numerical and structural chromosomal changes as well as mosaics and polyploids, was 4.5% (53 cases). The most common abnormalities were trisomy 21 (5 cases), trisomy 16 (4 cases), and monosomy X (4 cases). The incidence of chromosome abnormalities increased with the advancing age of the mother.

Abortion, Induced↗
PubMed1995

Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses.

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turner syndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18 = 77.5 per cent).

Adult↗
PubMed1997

Chromosome abnormalities in human beings.

Constitutional chromosomal abnormalities are an important cause of miscarriage, infertility, congenital anomalies and mental retardation in humans. Most human constitutional chromosomal imbalance results from aneuploidy, a condition that appears to be much more frequent in humans than in any other species studied. Chromosomal rearrangements and segmental deletions and duplications also occur in humans, but much less often. Although treatment of human somatic cells with some environmental agents produces chromosomal damage, no measurable increase in the frequency of constitutional chromosomal abnormalities has been unequivocally demonstrated among the children of parents exposed to any agent. Recent work has provided insight into a variety of mechanisms by which chromosomal abnormalities can arise during gametogenesis and early embryogenesis. Mechanisms have also been recognized that can correct or partially compensate for chromosomal imbalance, sometimes permitting survival of conceptuses that would otherwise be lost early in gestation. This improved understanding can be used to refine future studies of the cytogenetic effects of environmental exposures.

Abortion, Spontaneous↗
PubMed1997

Differential rates of somatic hypermutation in V(H) genes among subsets of chronic lymphocytic leukemia defined by chromosomal abnormalities.

Chronic lymphocytic leukemia (CLL) is a B-cell tumor involving small lymphocytes that generally express the CD5 antigen and low levels of surface Ig. Within this definition, there is heterogeneity among cases in cell morphology, karyotypic abnormalities, and clinical course. Trisomy 12, the most frequent karyotypic abnormality, is commonly found in a subset of CLL with atypical morphology. It has also been associated with advanced disease, and possibly with a less favorable prognosis. A further subset of cases with abnormalities involving chromosome 13q14 have typical lymphocyte morphology. Occasionally, the two abnormalities are found together. To assess the clonal history of the cell of origin in disease subsets defined by these two chromosomal abnormalities, we investigated the usage of V(H) genes and the pattern of somatic mutation in 10 cases of trisomy 12 with atypical morphology and eight cases of 13q14 abnormality with typical morphology. In addition, four cases with both chromosomal abnormalities were analyzed. Results confirm a common usage of the V(H)1 family in all subsets. However, the patterns of somatic mutation were distinct, with cases of trisomy 12 showing a minimal level of mutation (mean +/- SD, 0.34% +/- 0.86%) and cases of 13q14 abnormality showing significant levels (6.5% +/- 1.67%). The four cases with both abnormalities showed a mixed pattern. All mutated cases had intraclonal homogeneity, and three of 10 had a pattern indicative of antigen selection. These results suggest that the clonal history of the two subsets of CLL may differ.

Aged↗
PubMed1990

Chromosomal abnormalities in untreated patients with non-Hodgkin's lymphoma: associations with histology, clinical characteristics, and treatment outcome. The Nebraska Lymphoma Study Group.

We describe the chromosomal abnormalities found in 104 previously untreated patients with non-Hodgkin's lymphoma (NHL) and the correlations of these abnormalities with disease characteristics. The cytogenetic method used was a 24- to 48-hour culture, followed by G-banding. Several significant associations were discovered. A trisomy 3 was correlated with high-grade NHL. In the patients with an immunoblastic NHL, an abnormal chromosome no. 3 or 6 was found significantly more frequently. As previously described, a t(14;18) was significantly correlated with a follicular growth pattern. Abnormalities on chromosome no. 17 were correlated with a diffuse histology and a shorter survival. A shorter survival was also correlated with a +5, +6, +18, all abnormalities on chromosome no. 5, or involvement of breakpoint 14q11-12. In a multivariate analysis, these chromosomal abnormalities appeared to be independent prognostic factors and correlated with survival more strongly than any traditional prognostic variable. Patients with a t(11;14)(q13;q32) had an elevated lactate dehydrogenase (LDH). Skin infiltration was correlated with abnormalities on 2p. Abnormalities involving breakpoints 6q11-16 were correlated with B symptoms. Patients with abnormalities involving breakpoints 3q21-25 and 13q21-24 had more frequent bulky disease. The correlations of certain clinical findings with specific chromosomal abnormalities might help unveil the pathogenetic mechanisms of NHL and tailor treatment regimens.

Aged↗
PubMed1992

[Chromosomal abnormalities in carcinoma and hyperplasia of the prostate].

Epithelioid cells that had grown in short-term cultures derived from 10 cases of adenocarcinoma (PCa) and 10 cases of hyperplasia (BPH) of the prostate were karyotyped by the G-banding method for the pathogenesis of these disease. PCa specimens included 4 well, 2 moderately, and 4 poorly differentiated types, and were obtained by perineal needle biopsy from 4 patients in stage B and 6 patients in stage D2. Cells liberated from metastatic lymph node lesions of 2 patients with poorly differentiated PCa were also analyzed directly without cultivation in vitro. All BPH specimens were obtained by prostatectomy, and cells that had grown in epithelioid pattern in short-term cultures were analyzed. In PCa, hyperploidy was seen in all but 2 cases. Structure analysis disclosed abnormality of chromosome 16 in 4 PCa, deletion of Y in 3 PCa, abnormality of chromosomes 7, 14, 15, 18, and 19 in 2 PCa, and abnormality of chromosomes 3, 4, 17, and 21 in 1 PCa. Multiple markers were observed in 1 patient, and hyperploidy in another patient with metastatic lymph nodes. All but 2 cases of BPH were diploid. Normal male karyotypes were seen in 6 BPH. Trisomy of chromosomes 7 and 16 were observed in 2 BPH. Of 4 patients with stage B PCa, 3 who have been alive for 3 years to date had multiple abnormalities, whereas 1 patient who died 2 years after diagnosis had few abnormalities.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenocarcinoma↗
PubMed1990

Prognostic subgroups in B-cell chronic lymphocytic leukemia defined by specific chromosomal abnormalities.

BACKGROUND AND METHODS: Specific chromosomal abnormalities have been shown to affect the overall survival of patients with acute leukemia, but the possibility that specific chromosomal defects may influence the course of B-cell chronic lymphocytic leukemia (CLL) is controversial. We assessed this possibility as follows: blood mononuclear cells from 433 patients with B-cell CLL in five European centers were cultured with B-cell mitogens, and banded metaphases were studied. RESULTS: Three hundred ninety-one patients could be evaluated cytogenetically, and 218 had clonal chromosomal changes. The most common abnormalities were trisomy 12 (n = 67) and structural abnormalities of chromosome 13 (n = 51; most involving the site of the retinoblastoma gene) and of chromosome 14 (n = 41). Patients with a normal karyotype had a median overall survival of more than 15 years, in contrast to 7.7 years for patients with clonal changes. Patients with single abnormalities (n = 113) did better than those with complex karyotypes (P less than 0.001). Patients with abnormalities involving chromosome 14q had poorer survival than those with aberrations of chromosome 13q (P less than 0.05). Among patients with single abnormalities, those with trisomy 12 alone had poorer survival than patients with single aberrations of chromosome 13q (P = 0.01); the latter had the same survival as those with a normal karyotype. A high percentage of cells in metaphase with chromosomal abnormalities, indicating highly proliferative leukemic cells, was associated with poor survival (P less than 0.001). Cox proportional-hazards analysis identified age, sex, the percentage of cells in metaphase with chromosomal abnormalities, and the clinical stage of the disease (Binet classification system) as independent prognostic variables. CONCLUSIONS: Chromosomal analysis provides prognostic information about overall survival in addition to that supplied by clinical data in patients with B-cell CLL.

Adult↗
PubMed1984

Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981.

Based on 2890 prenatal diagnoses from 12 European countries the risk for a chromosomally abnormal fetus at amniocentesis after the birth of a child with a chromosome abnormality has been estimated to be 1.3 per cent when the mother's age is 34 years or less at amniocentesis and 1.8 per cent if the mother is older. This risk does not depend on paternal age, and it is independent of the type of the chromosome abnormality of the index child. Some geographical heterogeneities were detected. Therefore, the overall risk has to be considered as a rough estimate. The chromosome constitution of the abnormal fetus differed from that of the index patient in 21 of 41 cases. Several explanations for the higher risk have been discussed. If the index child had trisomy 18, 13 or a sex chromosome abnormality, the fetus tended to be a female. If the index child was a trisomy 21, the fetal sex ratio was normal.

Adult↗
PubMed2003

Sperm chromosomal abnormalities are linked to sperm morphologic deformities.

OBJECTIVE: To describe the association between specific sperm morphologic abnormalities and sperm chromosomal abnormalities on multicolor interphase fluorescence in situ hybridization (FISH). DESIGN: Case report. Reproductive medicine unit in a tertiary referral center. PATIENT(S): Three infertile men with severe oligoasthenospermia and total teratozoospermia who were referred for IVF treatment. MAIN OUTCOME MEASURE(S): Incidence of spermatozoal chromosomal aneuploidy for chromosome 18 and the sex chromosomes by using FISH. RESULT(S): Morphologic assessment of sperm revealed a high incidence of double heads, multinucleated sperm heads, and multiple tails. Hormone profiles and karyotyping of peripheral lymphocytes were normal in the three men. The proportion of sperm with disomy, trisomy and tetrasomy for chromosome 18, and the sex chromosomes in each patient was 100%, 76%, and 82.5%, respectively. CONCLUSION(S): Specific morphologic abnormalities of sperm may be associated with higher incidence of chromosomal abnormalities. Resolving infertility by offering patients in vitro fertilization/intracytoplasmic sperm injection must be approached with caution because of the significant risk for embryonic aneuploidy and chromosomal abnormalities in any subsequent offspring.

Adult↗
PubMed1982

[Structural and numerical chromosome abnormalities in human malignant melanoma cell lines (author's transl)].

Characteristics and cytogenetic markers of 36 human malignant cell lines were studied. Structural abnormalities of chromosomes 1, 2, 3, 6, 7, 9, 11, 12 and 22 were the most frequent. Relative polysomy for chromosome 3, 7, 16, 19, 20, 22 and monosomy for chromosome 9 were observed. Each cell line contained structural and/or numerical abnormalities of chromosome 7, but structural abnormalities of this chromosome were only observed in cell lines derived from metastases; while only polysomy of chromosome 7 was observed in cell lines derived from primaries or local recurrences.

Cell Line↗