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PubMed2000

Efficacy of community-based second trimester genetic ultrasonography in detecting the chromosomally abnormal fetus.

We sought to assess prospectively the efficacy of community-based genetic ultrasonography in detecting chromosomally abnormal fetuses in a high-risk population and determine independent markers of aneuploidy. Patients 18 years old and older who were between 14 and 24 weeks' gestation were included if referred for maternal age greater than 35 years, increased risk of Down syndrome or trisomy 18 by second trimester serum screen, or prior affected offspring. All women had a targeted ultrasonographic examination between April 1997 and June 1999 and were offered fetal chromosomal analysis. Markers of aneuploidy and pregnancy outcomes were recorded prospectively. The primary outcome was prenatally or postnatally detected chromosomal abnormalities. Of the 1030 fetuses seen during the study, 789 had outcome data available and constituted the study group. In this group, 694 (87.9%) ultrasonograms were normal, 73 (9.2%) had one marker present, 17 (2.2%) had two markers present, and 5 (0.6%) had three or more markers present. Fourteen of 17 (82.3%) aneuploid fetuses had an abnormal ultrasonogram (one or more markers present), including 5 of 7 (71.4%) with Down syndrome. Logistic regression showed abnormal four-chamber view, structural anomaly, and intracardiac echogenic focus to be significant aneuploidy markers. The amniocentesis rate was 334 of 1030 (32.4%), and it increased with the number of sonographic markers noted (0 = 29.9%, 1 = 60.2%, 2 = 70.6%, 3 or more = 80%). Genetic ultrasonography is highly effective in identifying chromosomally abnormal fetuses in a community-based practice.

Adolescent↗
PubMed1991

Relationship between sexual abstinence of men and chromosomally abnormal spermatozoa.

Epidemiological and mouse cytogenetic studies have suggested the existence of a positive relationship between the frequency of chromosomal abnormalities and the duration of male sexual abstinence. A cytogenetic analysis of human spermatozoa was performed with 4 men after periods of sexual abstinence ranging from 2 to 15 days. Using hamster eggs for penetration, 934 sperm chromosome complements were obtained. The overall frequency of sperm chromosomal abnormalities was 9.4%. There was no correlation between the length of sexual abstinence and each type of chromosomal abnormality. Our results do not support the hypothesis of an increased risk of aberration with duration of abstinence.

Adult↗
PubMed1975

Nonrandom chromosomal abnormalities in hematologic disorders of man.

A nonrandom pattern of chromosomal abnormalities occurs in bone marrow cells obtained from patients with hematologic disorders who have an abnormal karyotype involving a C group chromosome. An additional number 8 chromosome is the most common abnormality, found in more than one-half of the patients studies. An additional number 9 chromosome and the loss of all or part of a number 7 are abnormalities that occur more often than might be expected by chance. It is proposed that specific human chromosomal abnormalities may be related to different specific etiologic agents.

Acute Disease↗
PubMed1986

Chromosome abnormalities in acquired idiopathic sideroblastic anemia with subsequent leukemic transformation.

Chromosomal abnormalities were demonstrated in the bone marrow cultures of two patients with acquired idiopathic sideroblastic anemia (AISA). Both patients subsequently experienced leukemic transformation and developed acute myelomonocytic leukemia (type M4). A review of the literature revealed that approximately 40% of the AISA cases manifest chromosomal abnormalities, of which 20.5% underwent leukemic conversion.

Age Factors↗
PubMed2004

A strategy to detect chromosomal abnormalities in children with acute lymphoblastic leukemia.

Conventional cytogenetics (CC) can be used to identify chromosomal abnormalities that are predictors of treatment outcome in acute lymphoblastic leukemia (ALL). The detection of abnormalities in ALL is difficult because low mitotic index and poor-quality metaphases are obtained. Flow cytometry (FC) and fluorescence in situ hybridization (FISH) can be used to detect aneuploidy in any phase of the cell cycle, increasing the number of analyzable cells. The aim of this study was to develop a strategy combining these methods to improve the frequency of chromosome abnormality detection. One hundred children with newly diagnosed ALL were included. CC and DNA content analysis by FC were performed in all patients. The numerical abnormalities identified by both methods were compared and patients were classified as concordant or discordant. FISH was used to support aneuploidy results in discrepant cases using centromeric probes for the chromosomes most frequently involved in aneuploidy. CC and FC showed high concordance (86%). Fourteen cases were discrepant: nine showed hypodiploidy and low hyperdiploidy by cytogenetics and five showed high hyperdiploidy by FC. FISH confirmed aneuploidy in 12 cases in which it could be performed. High hyperdiploidy was the most common abnormality; the 31 cases showing this aneuploidy were identified by FC. The search for abnormalities must begin by measuring DNA content to detect this aneuploidy, which is useful to evaluate the patient's risk. However, it is important to screen for structural abnormalities by CC or molecular techniques. This strategy may detect chromosomal abnormalities, optimizing resources in laboratories where not all the screening methods are available.

Adolescent↗
PubMed2005

No prognostic effect of additional chromosomal abnormalities in children with acute lymphoblastic leukemia and 11q23 abnormalities.

This study characterized the additional chromosomal abnormalities (ACA) associated with 11q23 rearrangements in 450 infants and children with acute lymphoblastic leukemia (ALL) and examined the impact of these ACA on survival. Overall, 213 (47%) cases had ACA but the incidence varied according to patient age and 11q23 subgroup. Infants and patients with t(4;11)(q21;q23) had the lowest incidence of ACA (50/182 (27%) and 57/216 (26%) respectively), whereas patients with del(11)(q23) had the highest incidence (66/93 (71%)). Del(11)(q23) abnormalities were heterogeneous and occasionally secondary to t(9;22)(q34;q11.2). Thus, patients with del(11)(q23) comprised a separate biological entity, which was clearly distinct from those with an 11q23 translocation. The most frequent specific ACA were trisomy X (n = 38), abnormal 12p (n = 32), abnormal 9p (n = 28) and del(6q) (n = 19). The presence of ACA did not change the 5 year event-free survival estimates among children (56% (95% Cl 46-65%) vs 62% (54-69%)) or infants (22% (15-29%) vs 18% (9-29%)), nor when the different 11q23 subgroups were analyzed separately. This study has conclusively demonstrated that there is no prognostic effect of secondary chromosomal changes in association with 11q23 abnormalities in childhood ALL. However, characterization of these ACA is important to determine their potential role in initiation of MLL driven leukemogenesis.

Child↗
PubMed1986

Autism, mental retardation, and chromosomal abnormalities.

There are reports of sex chromosomal abnormalities including XXY, XYY, and fragile X karyotypes in autistic individuals, but structural autosomal defects have rarely been reported. This paper presents four patients with autism, mental retardation, minor dysmorphic features, and structural autosomal defects. These patients shared autistic features including fascination with inanimate objects, catastrophic reactions to changes in their environment or their daily routine, echolalia, and poor relatedness; IQ scores indicate mild to severe retardation. Their autosomal abnormalities included inversion/duplications of 3p and 16q, 5p+, and 17p-. Parental chromosomes were all normal. Chromosomal analysis should be performed on mentally retarded, autistic individuals, especially those with minor physical anomalies and no specific etiology for their retardation.

Adolescent↗
PubMed2000

Characterization of complex chromosomal abnormalities in B-cell lymphoma by a combined spectral karyotyping (SKY) analysis and fluorescence in situ hybridization (FISH) using a 14q telomere probe.

We report a case of non-Hodgkin's lymphoma of unknown origin with invasion into bone marrow and brain. This case showed complex chromosomal abnormalities, including five clonal marker chromosomes (mar) and four additional materials of unknown origin (add) that could not be identified by means of conventional G-banding. Spectral karyotyping (SKY) analysis could not only determine the origin and organization of all thus far unidentified structural chromosomal abnormalities but also detect two cryptic unbalanced translocations, which had been erroneously considered to be normal on the basis of G-banding analysis, and correct one abnormality misidentified by G banding. Among these abnormalities, we identified the new partner site of the 14q32 translocation, 22q13, and the jumping translocations involving 2p23 as a new donor chromosome. Furthermore, by using fluorescence in situ hybridization (FISH) with the probes specific for the 14q telomere, we could identify the unbalanced translocation of t(3;14)(q27;q32), which had been erroneously considered to be normal chromosome 3 on the basis of not only G-banding but also of SKY analysis. This translocation is one of the most frequent chromosomal abnormalities in B-cell lymphoma, especially diffuse large cell lymphoma. After SKY and FISH analysis, the original descriptions in the G-band karyotype were modified for a total of 13 chromosomes. The combination of SKY and FISH using the 14q telomere probe was therefore considered very useful for the characterization of complex cytogenetic cases in B-cell lymphoma.

Chromosome Aberrations↗
PubMed1991

Pregnancy termination because of chromosomal abnormalities: a study of 26,950 amniocenteses in the southeast.

A regional study was done to investigate the outcome of chromosomally abnormal pregnancies with respect to the parental decision to continue or to terminate the pregnancy. Fourteen medical centers in the southeastern United States contributed data on 26,950 amniocenteses. In 416 cases (1.54%), cytogenetic abnormalities were reported. Of 378 singleton pregnancies in which a cytogenetic abnormality was reported and for which information regarding pregnancy outcome was available, the decision to terminate the pregnancy was made in 276 (73.02%). When the chromosomal abnormality was autosomal in nature, 240 of the 293 pregnancies (81.91%) were terminated, as compared to 36 of the 85 pregnancies (42.35%) affected with a sex chromosomal abnormality. Pregnancies involving the most common autosomal trisomies (21, 18, and 13) were terminated at a rate of 92% to 95%. No significant difference in the rate of abnormality or in the rate of pregnancy termination existed between the 14 centers. Our findings reflect the largest series of amniocentesis results collected to date.

Abortion, Induced↗
PubMed1987

Prognostic significance of chromosomal abnormalities in acute nonlymphocytic leukemia: a study of 343 patients.

Clonal chromosome abnormalities of 343 patients with de novo acute nonlymphocytic leukemia (ANLL) have been tentatively correlated with prognosis. All the patients were treated according to therapeutic protocols in the same hospital. The complete remission rate and median survival were generally lower in AA-ANLL (ANLL with only karyotypically abnormal metaphases) when compared with NN- and AN-ANLL. Similarly, AA-ANLL had the poorest prognosis in the majority of the classes of the French-American-British nomenclature. ANLL with inversion and/or deletion of chromosome #16 had the best prognosis, and ANLL with t(8;21) was not particularly favorable, nor was acute promyelocytic leukemia with t(15;17). ANLL with complex chromosomal abnormalities had the poorest prognosis. The conclusion is that chromosomal aberrations do have a prognostic significance in ANLL, but that this significance is dependent on the types of chromosomal aberrations.

Acute Disease↗
PubMed1995

Blood transferrin receptor expression in chromosomally abnormal fetuses.

In a cross-sectional study of 13 chromosomally abnormal fetuses, umbilical venous blood was obtained by cordocentesis at 17-32 weeks' gestation. Fetal blood transferrin receptor (CD71) expression (mean = 79.8 per cent, range = 60-98 per cent) and nucleated red cell count (mean = 10.4 x 10(9) per 1, range = 1.0-25.0 x 10(9) per 1) were significantly higher than the appropriate normal mean for gestation (z = 3.92, P < 0.0001 and z = 3.69, P < 0.001, respectively). These haematological changes in chromosomally abnormal fetuses would facilitate their prenatal diagnosis by analysis of fetal nucleated red blood cells isolated from the maternal circulation on the basis of CD71 expression.

Chromosome Aberrations↗
PubMed2006

Assessment of molecular cytogenetic methods for the detection of chromosomal abnormalities.

Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone. Molecular cytogenetic techniques, such as spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH), can help to detect chromosomal aberrations precisely. We analyzed the karyotypes in 6 cases of multiple congenital abnormalities and 1 case of spontaneous abortion (case 2). Three cases (cases 1, 6, and 7) had marker chromosomes, and 4 cases (cases 2-5) had chromosomal rearrangements. The karyotypes in cases 1, 2, and 3 were determined using FISH with probes based on the clinical findings and family histories. Spectral karyotyping (SKY) analysis in cases 4-7 showed that this method is useful and saves time. The combination of SKY and FISH analyses defined the range of the ring chromosome in case 7. We demonstrated that a combination of G-banding, FISH, and SKY can be applied effectively to the investigation of chromosomal rearrangement and to the detection of marker chromosome origins. We suggest the use of these methods for prenatal diagnosis, in which the inherent time limitations are particularly important.

Adult↗
PubMed1998

Bone marrow transplantation for adults with acute leukaemia and 11q23 chromosomal abnormalities.

Adults with acute leukaemia and abnormalities of chromosome 11q23 have a poor prognosis when treated with conventional chemotherapy. To determine whether more intensive therapy can improve outcome for patients with this karyotypic finding, a retrospective analysis of all patients with acute leukaemia and 11q23 abnormalities treated at our centre was performed. 12 patients were treated with conventional chemotherapy alone (CC); 20 patients received high-dose chemo/radiotherapy (HDCT) with autologous (seven patients) or allogeneic (13 patients) bone marrow transplantation (BMT). The treatment-related mortality was 25% [95% Confidence Interval (CI) 7-69%] for the CC group and 46% (CI 25-73%) for the BMT group (P = 0.69). Cumulative risk of leukaemia progression was 89% (CI 61-100%) in the CC patients and 38% (CI 12-69%) in the BMT patients (P = 0.001). The 2-year event-free survival for patients treated with CC was 8% (CI 0-31%) and for patients receiving HDCT and BMT was 34% (CI 14-54%) (P = 0.03). These results confirm that conventional chemotherapy is rarely curative for adults with acute leukaemia and 11q23 abnormalities but that HDCT with BMT can result in long-term survival in a significant proportion of patients.

Acute Disease↗
PubMed1982

Chromosome abnormalities in human acute nonlymphocytic leukemia: relationship to age, sex, and exposure to mutagens.

Nonrandom chromosome changes have been observed in human acute nonlymphocytic leukemia (ANLL). Two specific translocations have been detected only in ANLL arrested in a particular stage in myeloid maturation, i.e., t(8;21) associated with acute myeloblastic leukemia (AML) with maturation (M2) and t(15;17) associated with acute promyelocytic leukemia (M3). Patients with these translocations are substantially younger then patients with the same type of leukemia who have either a normal karyotype or other chromosome abnormalities. Patients who have ANLL secondary to treatment for a prior malignant disease tend to have AML (M1 or M2) and an abnormal karyotype with losses of chromosome #5 and/or #7. A similar high incidence of AML and aneuploidy affecting particularly #5, 7, 8, and 21 was seen in patients with ANLL who were exposed to chemicals and pesticides. Complete unselected data are available for 239 patients with ANLL; 128 of these were classified as having AML (M1 or M2). Within the AML group, 65% of the patients were chromosomally abnormal. Except for 16 patients with a t(8;21), the percentage of those with an abnormal karyotype increased with age, particularly above the age of 50 years. In regard to abnormalities other than t(8;21), 29 patients had loss of part of all of #5 and/or #7, 11 had +8, and 27 had other abnormalities. On the other hand, of 70 patients with acute myelomonocytic leukemia (M4), 42 were normal, only 3 had loss of #5 or 7, 1 was -7, +8, and 4 were +8, whereas 20 had other abnormalities. This difference in karyotype may reflect different etiologic factors in these two types of leukemia.

Adolescent↗
PubMed1981

Distribution of alpha 1-antitrypsin (PI) phenotypes in chromosome abnormalities.

PI phenotypes (including subtypes) were determined for 168 individuals with chromosomal abnormalities ascertained in Adelaide. These included patients with mosaicism, trisomy 21, trisomy 13, trisomy 18, and various sex chromosome aberrations (45,X, 47,XXX, 47,XXY, 47, XYY, and 48,XXXY). Data did not support an existing proposition that mildly deficient PI phenotypes predispose to abnormal chromosome segregation during mitosis of meiosis. Phenotypic distributions of each group were statistically similar to control populations of cord bloods and bloods donors.

Alleles↗
PubMed2005

Numerical chromosomal abnormalities in equine embryos produced in vivo and in vitro.

Chromosomal aberrations are often listed as a significant cause of early embryonic death in the mare, despite the absence of any concrete evidence for their involvement. The current study aimed to validate fluorescent in situ hybridization (FISH) probes to label specific equine chromosomes (ECA2 and ECA4) in interphase nuclei and thereby determine whether numerical chromosome abnormalities occur in horse embryos produced either in vivo (n = 22) or in vitro (IVP: n = 20). Overall, 75% of 36,720 and 88% of 2,978 nuclei in the in vivo developed and IVP embryos were analyzable. Using a scoring system in which extra FISH signals were taken to indicate increases in ploidy and "missing" signals were assumed to be "false negatives," 98% of the cells were scored as diploid and the majority of embryos (30/42: 71%) were classified as exclusively diploid. However, one IVP embryo was recorded as entirely triploid and a further seven IVP and four in vivo embryos were classified as mosaics containing diploid and polyploid cells, such that the incidence of apparently mixoploid embryos tended to be higher for IVP than in vivo embryos (P = 0.118). When the number of FISH signals per nucleus was examined in more detail for 11 of the embryos, the classification as diploid or polyploid was largely supported because 2,174 of 2,274 nuclei (95.6%) contained equal numbers of signals for the two chromosomes. However, the remaining 100 cells (4.4%) had an uneven number of chromosomes and, while it is probable that many were artefacts of the FISH procedure, it is also likely that a proportion were the result of other types of aneuploidy (e.g., trisomy, monosomy, or nullisomy). These results demonstrate that chromosomally abnormal cells are present in morphologically normal equine conceptuses and suggest that IVP may increase their likelihood. Definitive distinction between polyploidy, aneuploidy and FISH artefacts would require the use of more than one probe per chromosome and/or probes for more than two chromosomes.

Animals↗
PubMed2004

Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes.

BACKGROUND: Preimplantation Genetic Diagnosis (PGD) using FISH to analyze up to nine chromosomes to discard chromosomally abnormal embryos has resulted in an increase of pregnancy rates in certain groups of patients. However, the number of chromosomes that can be analyzed is a clear limitation. We evaluate the reliability of using comparative genomic hybridization (CGH) to detect the whole set of chromosomes, as an alternative to PGD using FISH. METHODS AND RESULTS: We have analysed by CGH both, first polar bodies (1PBs) and metaphase II (MII) oocytes from 30 oocytes donated by 24 women. The aneuploidy rate was 48%. Considering two maternal age groups, a higher number of chromosome abnormalities were detected in the older group of oocytes (23% versus 75%, P < 0.02). About 33% of the 1PB-MII oocyte doublets diagnosed as aneuploid by CGH would have been misdiagnosed as normal if FISH with nine chromosome probes had been used. CONCLUSION: We demonstrate the reliability of 1PB analysis by CGH, to detect almost any chromosome abnormality in oocytes as well as unbalanced segregations of maternal translocations in a time frame compatible with regular in vitro fertilization (IVF). The selection of euploid oocytes could help to increase implantation and pregnancy rates of patients undergoing IVF treatment.

Adult↗