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At least 163 records · Page 9Linked to original sources
PubMed1994

Cytogenetic analysis of soft tissue sarcomas. Recurrent chromosome abnormalities in malignant peripheral nerve sheath tumors (MPNST).

Malignant peripheral nerve sheath tumors (MPNST) are known to develop in patients with neurofibromatosis 1 (NF1), thus providing an excellent model for the study of multistep carcinogenesis in genetically predisposed individuals. To determine the sites of gene(s) involved in such a process, we have performed cytogenetic analysis on 10 tumors. The patients were five males and five females ranging in age from 15 to 77 years. Nine patients had NF1. Karyotypic analysis of these tumors exhibited complex clonal abnormalities of several chromosomes. Recurrent abnormalities (numerical as well as structural) of chromosomes 1, 11, 12, 14, 17, and 22 occurred in a substantial proportion of tumors studied. Although abnormalities of these chromosomes have been seen in a variety of other tumors, the aberrations of chromosomes 17 and 22 are of particular interest; chromosomes 17 and 22 carry the genes for NF1 and NF2, respectively. In addition to other clonal aberrations, six tumors had abnormalities of both chromosomes 17 and 22, while three tumors only had an abnormality of chromosome 17. In eight tumors a structural abnormality of chromosome 17 included deletion or a relative deficiency of 17p; in four of the tumors there was also either deletion or rearrangement of the NF1 locus at the cytogenetic level. One tumor had monosomy of chromosome 17. The abnormality of chromosome 22 was deletion of 22q11.2-->qter. This study suggests that the germline mutation in one of the copies accompanied by loss or inactivation of the second copy of the NF1 gene and tumor suppressor gene(s) on 17p and 22q may be associated with the neoplastic transformation; abnormalities of other chromosomes may be related to progression of MPNST. Although the role of the p53 gene in carcinogenesis is well documented in several tumor types, the role of the NF2 gene or other unidentified tumor suppressor gene(s) on chromosomes 22q, 1p, 11, 12, 14 remains to be seen.

Adolescent↗
PubMed1983

Chromosomal abnormalities and their clinical significance in acute lymphoblastic leukemia. Third International Workshop on Chromosomes in Leukemia.

Three hundred thirty newly diagnosed patients were studied to determine the frequency and type of chromosomal abnormalities in acute lymphoblastic leukemia (ALL) and their clinical significance. Analyses of banded chromosomes revealed clonal chromosomal abnormalities in 218 patients (66%), including all cases of B-ALL; and 70% of non-T, non-B ALL; but only 39% of T-ALL (p less than 0.001). Patients were classified into 10 groups according to karyotype: no abnormalities (34%), one of the following recurring structural abnormalities [the Philadelphia chromosome (12%), t(4;11) (5%), t(8;14) (5%), 14q+ (4.5%), 6q- (4%)] or, in the remaining cases with abnormalities, the modal number [less than 46 (5%), 46 (12%), 47 to 50 (8%), greater than 50 (9%)]. Response to treatment (achievement of complete remission and remission duration) and survival differed significantly among chromosome groups (p less than 0.002). The best responses were seen in patients with a modal number greater than 50; the poorest responses were found in patients with the t(4;11) and t(8;14). Interestingly, survival for children and adults who had karyotypes with the same specific structural abnormalities [e.g., the Philadelphia chromosome or t(4;11)] was identical. Multivariate analysis demonstrated that the karyotypic pattern was an independent prognostic factor even when age, initial leukocyte count, and French-American-British (FAB) type were considered. We conclude that banded chromosome studies should be performed in all patients with ALL at diagnosis to identify those patients who have a pattern associated with a poor prognosis who may require more aggressive therapeutic approaches such as marrow transplantation.

Chromosome Aberrations↗
PubMed1989

Chromosomal abnormalities in Hodgkin's disease.

Numerous neoplastic states have associated or causal cytogenetic abnormalities. In some cancers, specific chromosomal abnormalities appear to correlate with the clinical characteristics and prognosis. Cytogenetic analysis of Hodgkin's disease is thought to be technically difficult and only a small number of cases with evaluable results have been reported. We have attempted cytogenetic studies of lymph nodes from 37 patients with Hodgkin's disease. In 29 of the 37 patients (78%), successful chromosomal analysis was accomplished. Chromosomal abnormalities were found in 13 patients (45%); five of these patients had been previously treated with chemotherapy. Numerical changes were found in all patients, most commonly involving chromosomes 5, 9, 15, 18, 22, X, and marker chromosomes. Seven patients also had structural abnormalities. The breakpoints 4q32-34, 6q24, 12q13, 12q23-24, and 13p11-13 were each seen in at least two patients. All but two patients had an admixture of normal cells. Three patients had two or more clones, and one had subclones. No statistically significant correlations between chromosomal abnormalities and clinical characteristics were demonstrated, although the number of patients in each subgroup was small. We conclude that chromosomal studies of Hodgkin's disease are likely to be successful. Additional studies are needed to correlate the karyotypical abnormalities in Hodgkin's disease with clinical and biological characteristics.

Adolescent↗
PubMed1997

Chromosome abnormalities in congenital heart disease.

Refinements in cytogenetic techniques have promoted progress in understanding the role that chromosome abnormalities play in the cause of congenital heart disease. To determine if mutations at specific loci cause congenital heart disease, irrespective of the presence of other defects, and to estimate the prevalence of chromosome abnormalities in selected conotruncal cardiac defects, we reviewed retrospectively cytogenetic and clinical databases at St. Louis Children's Hospital. Patients with known 7q11.23 deletion (Williams syndrome), Ullrich-Turner syndrome (UTS), and most autosomal trisomies were excluded from this analysis. Two groups of patients were studied. Over a 6.5-year period, 57 patients with chromosomal abnormalities and congenital heart disease were identified. Of these, 37 had 22q11 deletions; 5 had abnormalities of 8p; and 15 had several other chromosome abnormalities. The prevalence of chromosome abnormalities in selected conotruncal or aortic arch defects was estimated by analysis of a subgroup of patients from a recent 22-month period. Chromosome abnormalities were present in 12% of patients with tetralogy of Fallot, 26% in tetralogy of Fallot/pulmonary atresia, 44% in interrupted aortic arch, 12% in truncus arteriosus, 5% in double outlet right ventricle, and 60% in absent pulmonary valve. We conclude that chromosome analysis should be considered in patients with certain cardiac defects. Specifically, fluorescent in situ hybridization (FISH) analysis of 22q11 is indicated in patients with conotruncal defects or interrupted aortic arch. High resolution analysis should include careful evaluation of the 8p region in patients with either conotruncal or endocardial cushion defects.

Chromosome Deletion↗
PubMed1991

Incidence of fetal chromosome abnormalities in insulin dependent diabetic women.

In order to screen for fetal neural tube defects and chromosome abnormalities, amniocentesis was carried out in 334 women with insulin-dependent diabetes mellitus (IDDM) between 1979 and 1987. Two cases (0.6%; 95% confidence limits 0.1-2.2%) of fetal chromosome abnormality were found: one case of Klinefelter's syndrome and one case of de novo translocation. This is comparable to the overall incidence of chromosome abnormality found at birth and is also comparable to the incidence of fetal chromosome abnormality (1.0%) found by amniocentesis at our Department in a group of 2,264 young non-diabetic women with little risk of contracting genetic disorders. The results suggest that maternal IDDM does not increase the risk of fetal chromosome abnormality and consequently screening by amniocentesis for chromosome abnormalities among diabetic women does not seem to be indicated.

Adult↗
PubMedDate not supplied

Chromosomal abnormalities and polymorphisms in Mexican infertile men.

A cross-sectional study was conducted to estimate the prevalence of chromosome abnormalities and normal variable chromosome features (polymorphisms) in infertile men from northeastern Mexico. Karyotyping was carried out in 326 men with diagnosis of infertility. The sperm counts showed 204 patients with oligozoospermia, 87 with azoospermia and 35 normozoospermia. Five patients with oligozoospemia and two with azoospermia presented chromosome abnormalities. Nonzoospermic men did not show chromosomal abnormalities. Polymorphisms of heterochromatin and satellite length showed a significant increased in oligozoospermic and azoospermic men with respect to normozoospermic men, respectively. This study reports the prevalence of chromosome abnormalities, polymorphisms of heterochromatin length, and polymorphisms in satellites in Mexican infertile men. The prevalence in this study was similar to other studies in world literature.

Chromosome Aberrations↗
PubMed1980

Chromosomal abnormality in the newborns of hepatitis B surface antigen (HBsAg) carrier mothers.

The association of maternal hepatitis B surface antigen carriers (HBsAg) and chromosomal abnormalities in their newborns has been previously suggested. This is a report on two female infants with abnormalities of chromosome 18 and trisomy 3q syndrome who were born to HBsAg carriers. These cases indicate that a possible relationship exists between the HBsAg carrier state in the mother and chromosome abnormalities in her offspring. It is suggested that the parents of all newborns with a structural chromosomal abnormality be tested for HBsAg.

Carrier State↗
PubMed1997

Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos.

OBJECTIVE: To verify the percentage of chromosomally abnormal preimplantation embryos in patients with a poor prognosis and possibly to increase the chance of implantation by selecting chromosomally normal embryos. DESIGN: A prospective, randomized, controlled study. SETTING: In vitro fertilization program at the Reproductive Medicine Unit of the Società Italiana Studi Medicina della Riproduzione, Bologna, Italy. PATIENT(S): In a total of 28 stimulated cycles, the maternal age was > or = 38 years and/or the patient had > or = 3 previous IVF failures, factors that indicated a poor prognosis. After consent, 11 patients underwent preimplantation genetic diagnosis for aneuploidy, whereas 17 controls underwent assisted zona hatching. INTERVENTION(S): Simultaneous analysis of chromosomes X, Y, 13, 18, and 21 in a blastomere biopsied from day-3 embryos. Chromosomal analysis was performed with fluorescence in situ hybridization. Assisted zona hatching was performed on day-3 embryos from the control-group patients. MAIN OUTCOME MEASURE(S): Embryo morphology, results of fluorescence in situ hybridization, clinical pregnancies, and implantation. RESULT(S): In the study group, a total of 61 embryos were analyzed by fluorescence in situ hybridization, and 55% were chromosomally abnormal. Embryo transfer with at least one normal embryo was performed in 10 cycles. Four clinical pregnancies resulted, with a 28.0% implantation rate. In the control group, 41 embryos were transferred in 17 cycles after the assisted zona hatching procedure, yielding four clinical pregnancies and an 11.9% implantation rate. CONCLUSION(S): Infertile patients classified as having a poor prognosis have a high percentage of chromosomally abnormal embryos. The advantage of selecting and transferring embryos with normal fluorescence in situ hybridization results has an immediate impact on implantation.

Adult↗
PubMed2001

ACOG Practice Bulletin No. 27: Clinical Management Guidelines for Obstetrician-Gynecologists. Prenatal diagnosis of fetal chromosomal abnormalities.

The prevalence of chromosomal abnormalities in clinically recognized early pregnancy loss is approximately 50% (1). Aneuploid fetuses account for 6-11% of all stillbirths and neonatal deaths (2). Chromosome defects compatible with life but causing significant morbidity occur in 0.65% of newborns, and another 0.2% have structural chromosomal rearrangements that will eventually affect reproduction (3). Although it is not possible to identify all aneuploidies antenatally, screening and diagnostic programs to detect the most common autosomal trisomy in liveborn infants, Down syndrome, are well established. This document will provide clinical management guidelines for the prenatal detection of these aneuploidies.

Age Factors↗
PubMed1995

Maternal serum screening and routine 18-week ultrasound in the detection of all chromosomal abnormalities.

Over a 15-month period, maternal serum screening (alpha fetoprotein, oestriol, chorionic gonadotrophin) and ultrasound were evaluated in the detection of all chromosomal abnormalities. Of the 981 screened, there were 8 chromosomally abnormal pregnancies. Six of these were considered to be at increased risk on serum screening, all of which were detected. Of the remaining 2, one was detected by ultrasound and the other resulted in a liveborn baby with trisomy 21. The positive and negative predictive values for serum screening for all chromosomal abnormalities was 7.8% and 99.9% respectively. The sensitivity and specificity was 87.5% and 91.5% respectively. Serum screening is useful in the detection of many chromosomal abnormalities, not just Down syndrome. The combination of maternal serum screening and ultrasound has a high negative predictive value and is valuable in providing reassurance of no underlying chromosomal abnormality. With a positive predictive value of 7.8% a chromosomal abnormality will be found once in every 13 amniocenteses performed.

Adult↗
PubMed2006

Chromosome abnormalities and their relationship to morphology and development of human embryos.

This review covers the relationship between chromosome abnormalities, morphological abnormalities and embryonic development. The baseline of chromosome abnormalities in human embryos produced by assisted reproduction is higher than 50%, regardless of maternal age. While aneuploidy increases with maternal age, abnormalities arising post-meiotically, such as mosaicism, chaoticism, polyploidy and haploidy, have similar incidence in all age groups (about 33%). Post-meiotic abnormalities do increase with dysmorphism. The most common dysmorphisms found in cleavage-stage embryos are multinucleation, fragmentation and uneven cells, among others. All dysmorphisms are associated with an increase in post-meiotic chromosome abnormalities and a decreased implantation potential. Similarly, embryos developing slowly or with arrested development have higher incidence of post-meiotic abnormalities than normally developing ones. Chromosome studies in blastocysts indicate that mosaicism is the most common abnormality but that the load of abnormal cells decreases with increasing blastocyst quality. Regardless of blastocyst quality, more than 40% of mosaics are still chromosomally abnormal and will not implant or will spontaneously abort. Because aneuploidy is not related to cleavage stage dysmorphism and trisomies can reach blastocyst stage and beyond, morphological analysis is not enough to select against chromosome abnormalities, and thus preimplantation genetic diagnosis should be recommended in patients 35 and older.

Adult↗
PubMed1985

Chromosome abnormalities in malignant histiocytosis.

Chromosome and pathologic studies were performed on two patients (a 12-year-old boy and a 62-year-old woman) with malignant histiocytosis (MH). Both patients had chromosome abnormalities in their neoplastic cells: the boy's karyotype was 45,Xp+,-Y,9p+,18q-, and the woman's 48,XX,+16, inv(1),mar(5),6p-,10p+,12q+,i(18q),+i(18q). The boy had typical clinical and pathologic findings of MH, and died without achieving remission by chemotherapy. At the initial stage the woman had the clinical and hematologic findings of MH. Chemotherapy was given, but had no beneficial effects. At the terminal stage the bone marrow (BM) biopsy and aspirate, and the autopsy findings, were consistent with those of non-Hodgkin lymphoma, diffuse large cell type, although some histiocytes or abnormal cells in monocyte-macrophage lineage remained in the BM and the autopsied lymph nodes. This study and a review of data on six other cases have failed to establish any specific chromosome changes in MH.

Adolescent↗
PubMed2001

Developmental ability of chromosomally abnormal human embryos to develop to the blastocyst stage.

BACKGROUND: A correlation between morphology, developmental competence and chromosome abnormalities is established. However, since absolute correlations are rare, embryo selection remains one of the most arduous tasks in assisted reproduction. This study was undertaken in order to determine which chromosomal abnormalities are compatible with development to the blastocyst stage. METHODS: Embryos diagnosed by preimplantation genetic diagnosis (PGD) as chromosomally abnormal or unsuitable for transfer were cultured to day 5 or 6. Morphology and development were observed daily. After extended culture, embryos were fixed and analysed by two rounds of FISH with the same probes used for PGD. RESULTS: Some types of numerical chromosome abnormalities do not preclude full differentiation in vitro. For instance, extensive mosaicism was detected in blastocysts and trisomic embryos reached the blastocyst stage with a frequency of 37%. Interestingly, only those monosomies compatible with first trimester development (monosomy X and 21) were detected at blastocyst stage. CONCLUSION: Even though there is a strong selection against chromosomally abnormal embryos, extended culture to day 5 or 6 cannot be used as a reliable tool to select against clinically relevant chromosome abnormalities such as trisomies.

Adult↗
PubMed1990

Femur length in the US prediction of trisomy 21 and other chromosomal abnormalities.

After review of 461 consecutive amniocentesis examinations, 428 fetuses with normal karyotype and 13 with chromosomal abnormalities were analyzed. Six of the abnormal fetuses had trisomy 21, and seven had other chromosomal abnormalities. The ratio of measured-to-expected femur length (MFL/EFL) was determined for each fetus. The MFL/EFL values were 1.0 +/- 0.7 (mean +/- standard deviation) for the control group, 0.94 +/- 0.06 for trisomy 21 fetuses, 0.94 +/- 0.10 for non-trisomy 21 fetuses, and 0.94 +/- 0.08 for the entire group of fetuses with chromosomal abnormalities. The mean MFL/EFL value for the abnormal fetuses differed significantly from that for the control group (P less than .003). An MFL/EFL of 0.90 or less resulted in a sensitivity of 46.2% and a specificity of 94.1% for detection of all chromosomal abnormalities. For detecting trisomy 21, the sensitivity and specificity were 50% and 93.5%, respectively. Assuming a pretest probability for trisomy 21 of one in 250, an MFL/EFL of 0.90 or less resulted in a positive predictive value of 3%. It is concluded that an MFL/EFL of less than 0.90 modifies the relative risk for chromosomal abnormalities and may significantly influence the decision for amniocentesis.

Chromosome Aberrations↗