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PubMed1997

The role of reduced ear size in the prenatal detection of chromosomal abnormalities.

A prospective ultrasound study was performed between 18 and 38 weeks' gestation on 29 fetuses in a high-risk population, defined by the presence of structural anomalies, in order to investigate the usefulness of fetal ear measurements in the prenatal prediction of chromosomal abnormality. The prevalence of abnormal chromosomes was 34 per cent. The sensitivity (SE), specificity (SC), positive predictive values (PPV), and negative predictive values (NPV) of ear length for the detection of chromosomal abnormality were 80, 84.2, 72.7 and 88.9 per cent. The SE, SC, PPV, and NPV of ear width were 40, 94.7, 80 and 75 per cent. Fetal ear measurements may be a useful adjunct to the various ultrasound parameters in the prenatal detection of chromosome abnormality in a high-risk population of fetuses with structural anomaly(ies).

Adolescent↗
PubMed1984

Diagnosing of chromosome abnormalities in Denmark.

A survey of how frequent chromosome abnormalities are diagnosed in Denmark prenatally as well as postnatally compared with the expected incidence in an 11-year period 1970-1980 has been made from the Danish Cytogenetic Central Register. Ten percent of the expected number of Klinefelter's syndrome, 41% of Turner's syndrome and 10% of other sex chromosome abnormalities in children born between 1970 and 1980 have been diagnosed until January 1, 1983. The total frequency of diagnosed cases with sex chromosome abnormalities is 13% of the expected number. Induced abortion was made in 62% of the cases with sex chromosome abnormalities diagnosed prenatally. Ninety percent of all cases with Down's syndrome were diagnosed by chromosome examination, and 10% were diagnosed prenatally and aborted. During the last part of the period from 1977-1980 this had increased to 20%. Thirty-seven percent of cases with other chromosome abnormalities were diagnosed. Among the expected 4,396 children with chromosome abnormalities to be born between 1970 and 1980, a total of 39% were diagnosed postnatally until January 1, 1983, and 10% were diagnosed prenatally. It is concluded that there is a great need for training consultants in clinical genetics, expansion and further decentralization of cytogenetic service with more cytogenetic laboratories and employment of clinical geneticists in all 14 Danish counties.

Chromosome Aberrations↗
PubMed1996

A prospective study of the association between isolated fetal pyelectasis and chromosomal abnormality.

OBJECTIVE: To determine the incidence of chromosomal abnormalities among fetuses with isolated pyelectasis. METHODS: Between March 1991 and March 1994, 121 cases of isolated fetal pyelectasis were identified at our institution. Pyelectasis was defined as a renal pelvis anteroposterior diameter of at least 4 mm before 33 weeks' gestation, and at least 7 mm at 33 weeks or thereafter. Once identified, women were offered antenatal genetic testing; if they declined, consent was sought for umbilical cord blood studies at delivery. RESULTS: Chromosomal evaluation was available in 99 women. Two chromosomal abnormalities were identified: one trisomy 21 and one mosaic 46, XY/47, XYY. The ages of the women were 32 and 28 years, respectively. Calculation of adjusted risks for Down syndrome and all chromosomal abnormalities indicated a 3.9-fold increase in Down syndrome risk and a 3.3-fold increase in risk for all chromosomal abnormalities in the presence of isolated fetal pyelectasis. CONCLUSION: Isolated fetal pyelectasis is associated with increased risk, over that related to age, for both Down syndrome and all chromosomal abnormalities. These factors may be valuable in counseling individual patients regarding the appropriateness of amniocentesis.

Adult↗
PubMed2000

Central precocious puberty and abnormal chromosomal patterns.

Central precocious puberty (PP) can be caused by chromosomal aberrations. We report three patients presenting with central PP in whom karyotype analysis demonstrated abnormal chromosomal patterns. The first patient was affected by the triple-X syndrome, commonly characterized by premature ovarian failure. The second patient, a girl with inv dup(15)(pter-->q12::q12-->pter), had a chromosomal aberration involving an imprinted region of the human genome, whose deletion is commonly associated with Prader-Willi syndrome (PWS) and hypogonadotrophic hypogonadism. The third patient was a boy carrying a rare chromosome abnormality, the duplication of chromosome 9 (q22-->qter). All patients had mental retardation, which was mild in patient 1, moderate in patient 2, and severe in case 3. They underwent treatment with luteinizing hormone releasing hormone (LHRH) analogs, which were able to stop the progression of the sexual development. We confirm that chromosomal aberrations are an important cause of central PP, and that karyotype analysis in patients with PP and mental retardation, even if mild, is necessary because chromosomal abnormalities can be present.

Journal Article↗
PubMedDate not supplied

Chromosomal abnormalities: detection and implications for cancer development.

The occurrence of chromosomal abnormalities is a common theme in carcinogenesis. A large proportion of tumours which have been characterized at the cytogenetic level carries numerical and/or structural aberrations. Numerical alterations may include acquisition or loss of specific chromosomes or dramatic changes in overall ploidy levels. Structural aberrations may include DNA amplifications or deletions, inversions and translocations. Many chromosomal alterations occur in a non-random fashion and may be subdivided in to primary and secondary, according to their timing of occurrence. Primary chromosomal abnormalities usually occur at the early stages of tumourigenesis and are often encountered as sole cytogenetic abnormalities. Secondary chromosomal abnormalities are usually associated with more advanced stages of tumour development. In recent years several chromosomal abnormalities could be correlated with specific gene alterations, thus providing insights into the molecular mechanisms underlying tumourigenesis. The biological consequences imparted by other chromosomal changes such as numerical changes are, however, less clear. By using recently developed molecular techniques for chromosome characterization, so-called molecular cytogenetics, our perception on cancer cytogenetics is rapidly changing through the disclosure of hitherto unknown (specific) chromosomal abnormalities.

Chromosome Aberrations↗
PubMed1983

Nonrandom chromosome abnormalities in lymphoma.

G-banded chromosomes were studied from involved lymph nodes or other tumor masses in 94 patients with malignant lymphoma. Clonal chromosome abnormalities were identified in 91 patients including all 81 B-lymphomas but only 6 of 9 T-lymphomas. Many recurring chromosome abnormalities were found. Most common numerical alterations involved gains of chromosomes 12 (19% of patients), 18 (13%), 7 (12%), and 21 (10%). Structural abnormalities, which were more frequent than numerical alterations, most commonly involved chromosome regions 14q (71% of patients), 18q (36%), 6q (31%), 1p (24%), and 8q (19%). Seven recurring translocations were identified, and all except one involved 14q32. The most frequent were t(14;18)(q32;q21) in 22 patients, t(8;14)(q24;q32) in 9 patients, and t(1;14)(q42;q32) in 3 patients. Deletions most frequently involved the long arm of chromosome 6 at band q21 (11 patients) or q23 (7 patients). The common recurring chromosome abnormalities were correlated with histology (International Working Formulation for Clinical Usage) and immunological phenotype. Four abnormalities were significantly associated with specific histologies. Eighteen (82%) patients with t(14;18)(q32;q21) were follicular. Similarly, 82% of patients with del(6)(q21) were large cell lymphomas. Lymphomas with trisomy 7 were either diffuse large cell or follicular, while patients with t(8;14)(q24;q32) were either diffuse large cell or small noncleaved cell. A significant association with immunological phenotype was seen for t(14;18) only. All patients were either B- or complement lymphomas, and the heavy chain(s) was more commonly gamma and less frequently delta mu than among the total B-lymphoma population. We conclude that essentially all lymphomas have cytogenetic abnormalities; further study is required to determine their significance. Particularly, it will be of interest to see if oncogenes are found in the regions of these chromosome abnormalities.

Adolescent↗
PubMed2006

Report of novel chromosomal abnormalities in a series of 130 chronic lymphocytic leukemia patients studied by classic cytogenetic analysis.

One-hundred-and-thirty typical, unselected CLL cases were studied by conventional cytogenetic analysis. Seventy-three patients (56.2%) had normal karyotype ('normal sub-group'), while 57/130 patients (43.8%) had abnormal karyotype. Twenty-two of 57 patients (38.6%) carried more than one abnormality. Six novel chromosomal abnormalities were detected in five patients: (i) t(3;13)(q14;q34); (ii) t(Y;11)(q12;q23), del(13)(q12q14); (iii) dic(3;11)(p21;q23); (iv) t(3;5)(q29;q23); (v) t(3;22) (p21;q13); and (vi) t(1;13)(p12;q12). Three of five patients carrying novel translocations had progressive disease. The true biological and clinical significance of novel chromosomal abnormalities remains to be determined.

Aged↗
PubMed1978

[Chromosomal abnormalities in human neoplasia (author's transl)].

Multiple connections exist between chromosomal aberrations and malignant tumors. It is the aim of the present article to summarize the data known so far in view of i) cancer-prone chromosome abnormalities, ii) chromosome abnormalities related to tumors and iii) chromosome abnormalities related to carcinogens. In some instances it seemed useful to discuss the findings in man in connection with the results of in vitro experimental data.

Carcinogens↗
PubMed1995

Chromosomal abnormalities in 47 pediatric brain tumors.

The karyotypes of 47 pediatric brain tumors (14 cerebellar pilocytic astrocytomas, six cerebral pilocytic astrocytomas, seven anaplastic astrocytomas and glioblastomas, nine medulloblastomas [PNETs], one cerebral neuroblastoma, four ependymomas, and seven miscellaneous other neoplasms) are presented. Most of the pilocytic astrocytomas and ependymomas had normal karyotypes. In contrast, the majority of the anaplastic astrocytomas-glioblastomas were abnormal. The abnormalities included losses and structural abnormalities of chromosomes 9, 13, and 17, and double minutes. There were no losses of chromosomes 10 and 19q or gains of chromosome 7, which are among the most common abnormalities of adult glioblastomas. The chromosomal abnormalities in the medulloblastomas were similar to those reported in the literature but less frequent. Four tumors (choroid plexus papilloma, meningioma, cerebral malignant rhabdoid tumor, and immature teratoma) had losses of chromosome 22.

Adolescent↗
PubMed1999

Role of decidual natural killer (NK) cells in patients with missed abortion: differences between cases with normal and abnormal chromosome.

In order to study the mechanism of abortion, the proportions of NK cells in the peripheral blood and decidual lymphocytes were evaluated in both chromosomally normal and abnormal missed abortions. In normal pregnancy, CD56+16-3- NK cells are a major element of decidual lymphocytes. The percentages of CD56+16-3-NK cells of peripheral lymphocytes in normal pregnancies were not statistically significantly different from those of chromosomally normal and abnormal abortions. In the decidua, the percentages of CD56+16-3- NK cells of decidual lymphocytes showed no statistically significant differences between normal pregnancies and chromosomally abnormal abortions. However, the percentages of CD56+16-3-NK cells of chromosomally normal abortions were lower than those of chromosomally abnormal (P = 0.0025). Moreover, the percentages of CD56+16- NK cells in abortions with normal chromosomes were lower than those in normal pregnancies or abortions with abnormal chromosomes (P = 0.0037, P = 0.0025). However, when the proportion of CD56+ NK cells expressing CD16 was evaluated, there were no statistically significant differences in the percentages of CD56+16+ NK cells in normal pregnancies and missed abortions with normal chromosomes and abnormal chromosomes. We conclude that the expression of decidual CD56+16-3- NK cells in missed abortions with normal chromosomes is different from abortions with abnormal chromosomes and that this phenomenon may depend on an abnormal immune response of the maternal side.

Abortion, Missed↗
PubMed1987

Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities.

The alpha subunit of human chorionic gonadotropin (alpha-hCG), human chorionic gonadotropin (hCG) and alpha fetoprotein (AFP) were measured in the serum of 25 women with chromosomally abnormal fetuses between 18 and 25 weeks of gestation and in 74 normal pregnancies. AFP levels less than 0.5 multiples of the median (MoM) or greater than 2.5 MoM were observed in 24 per cent of the abnormal pregnancies and in 6.76 per cent of the normal pregnancies. A low concentration of hCG (less than 0.25 MoM) was observed in 8 per cent of abnormals and in 2.7 per cent of normals while an elevated concentration of hCG (greater than 2.5 MoM) was observed in 56 per cent of abnormals and in 1.35 per cent of normals. Elevated hCG-alpha (greater than 2.5 MoM) was observed in 28 per cent of abnormals and in none of the normals. Determination of elevated levels of hCG-alpha or hCG resulted in detection of 68 per cent of pregnancies with chromosomally abnormal fetuses with a false positive rate of 1.35 per cent. Determination of both elevated and depressed gonadotropin levels resulted in detection of 76 per cent of abnormal pregnancies with a false positive rate of 4.05 per cent. Measurement of hCG and hCG-alpha in maternal serum samples can be used as a screening procedure for detecting pregnancies at risk for fetal chromosome abnormalities.

Chorionic Gonadotropin↗
PubMed2004

Identification of embryonic chromosomal abnormality using FISH-based preimplantation genetic diagnosis.

OBJECTIVE: Embryonic chromosomal abnormality is one of the main reasons for in vitro fertilization (IVF) failure. This study aimed at evaluating the value of Fluorescence in-situ Hybridization (FISH)-based Preimplantation Genetic Diagnosis (PGD) in screening for embryonic chromosomal abnormality to increase the successful rate of IVF. METHOD: Ten couples, four with high risk of chromosomal abnormality and six infertile couples, underwent FISH-based PGD during IVF procedure. At day 3, one or two blastomeres were aspirated from each embryo. Biopsied blastomeres were examined using FISH analysis to screen out embryos with chromosomal abnormalities. At day 4, embryos without detectable chromosomal abnormality were transferred to the mother bodies as in regular IVF. RESULTS: Among 54 embryos screened using FISH-based PGD, 30 embryos were detected to have chromosomal abnormalities. The 24 healthy embryos were implanted, resulting in four clinical pregnancies, two of which led to successful normal birth of two healthy babies; one to ongoing pregnancy during the writing of this article; and one to ectopic pregnancy. CONCLUSION: FISH-based PGD is an effective method for detecting embryonic chromosomal abnormality, which is one of the common causes of spontaneous miscarriages and chromosomally unbalanced offsprings.

Adult↗
PubMed1970

Chromosomal abnormalities in the human population: estimation of rates based on New Haven newborn study.

The incidence of gross chromosomal abnormality was measured in a large (4500), relatively unbiased sample of New Haven infants born during 1 year. The frequency of infants with abnormal chromosomal constitutions was 0.5 percent. For mothers over age 34, 1.5 percent of newborns were chromosomally abnormal. Only one in four of these infants could have been detected by phenotypic criteria alone. Methods are discussed whereby this fraction of the newborn population might be detected and possibly reduced.

Aneuploidy↗
PubMed1990

Chromosome abnormalities in human epithelial ovarian malignancies.

Karyotypic analysis of tumor specimens from 29 patients with untreated epithelial ovarian carcinoma was performed at the University of Kentucky Medical Center. Twenty-three of the twenty-nine tumors had adequate cells for analysis. Seventeen of these tumors exhibited chromosome abnormalities. Chromosome alterations were complex, with an average of seven different abnormal chromosomal patterns per tumor (range 2-14). Chromosomes 1 and 11 were the most commonly involved, being abnormal in 89 and 83% of tumors, respectively. Chromosomes 3 and 7 were also frequently abnormal. In contrast to invasive tumors, alterations in chromosomes 1 and 11 were not seen in the two tumors of borderline malignant potential. Evidence for DNA amplification of IGF2, Ha-ras-1, and c-ets was not observed. Amplification of the c-erbB-2 oncogene was present in two tumors. These findings indicate that multiple karyotypic abnormalities occur in untreated epithelial ovarian malignancies, with chromosomes 1 and 11 being the most frequently abnormal. These data also suggest that alterations of these chromosomes may be associated with the biologically aggressive behavior of frankly invasive ovarian tumors.

Adult↗
PubMed1984

Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality.

Cytogenetic investigation was carried out on 231 female patients referred for suspected sex chromosome abnormality. Cases were classified into five groups according to reason for referral and chromosome abnormality frequency was estimated. The overall frequency of abnormal karyotypes was 38.5%. The rate of positive identification of chromosome abnormality ranges from 0 in patients with secondary amenorrhoea to 80% in those with Turner phenotype. Our data demonstrate that the indications for referral of female patients with suspected sex chromosome abnormality are not only primary amenorrhoea alone or short stature and primary amenorrhoea without Turner stigmata, but also short stature of unknown etiology without any additional anomaly during childhood.

Adolescent↗
PubMed1985

Chromosome abnormalities in malignant hematologic disorders.

Certain chromosome abnormalities have been detected in routine cytogenetic studies of patients with hematologic disorders. This article is a cytogenetic and clinical review of 28 structural and 15 numeric chromosome abnormalities. As a group, the structural abnormalities involved 40 different chromosome breakpoints and included 13 types of translocations, 8 deletions, 3 isochromosomes, 3 inversions, and 1 duplication. The numeric abnormalities included 4 types of monosomy, 10 trisomies, and a near-haploid category. We determined the relative frequency for each of these anomalies in our practice by reviewing the results of 1,228 consecutive specimens studied between 1979 and 1984 in which a chromosomally abnormal clone was found; 61% of these specimens had one or more of the selected anomalies. The three most common translocations were 9;22 translocations (378 specimens), 8;21 translocations (15 specimens), and unbalanced abnormalities derived from 1;7 translocations (13 specimens). The two most common deletions were those involving the long arm of chromosomes 5 (101 specimens) and 20 (65 specimens). The most common isochromosome was i(17q) (33 specimens). The two most common types of monosomy were loss of a Y chromosome (118 specimens) and monosomy 7 (97 specimens). The three most common trisomies were + 8 (161 specimens), +21 (53 specimens), and +19 (31 specimens). Each of the 43 anomalies was observed in patients with different types of hematologic disorders, but in most cases one kind of neoplasm usually predominated.

Chromosome Aberrations↗
PubMed1984

Solid tumors of children: chromosome abnormalities and the development of cancer.

Chromosome abnormalities in five solid tumors which occur predominantly in children and young adults are described. Four of the tumors are associated with rearrangements involving particular chromosome segments: deletion 13q14 in retinoblastoma, deletion 11p13 in Wilms' tumor, deletions/rearrangements of 1p (distal to band 1p31) in neuroblastoma, and translocation 22/autosome in Ewing sarcoma. Though aneuploidy for a number of chromosomes may occur in the fifth tumor, rhabdomyosarcoma, it has yet to be associated with a consistent marker arrangement. A general classification of chromosome abnormalities in cancer is presented. Possible roles for the gene changes produced by each class of chromosome abnormality in the development of cancer are discussed.

Child↗
PubMed1992

The presence of interstitial telomeric sequences in constitutional chromosome abnormalities.

We describe a novel chromosome structure in which telomeric sequences are present interstitially, at the apparent breakpoint junctions of structurally abnormal chromosomes. In the linear chromosomes with interstitial telomeric sequences, there were three sites of hybridization of the telomere consensus sequence within each derived chromosome: one at each terminus and one at the breakpoint junction. Telomeric sequences also were observed within a ring chromosome. The rearrangements examined were constitutional chromosome abnormalities with a breakpoint assigned to a terminal band. In each case (with the exception of the ring chromosome), an acentric segment of one chromosome was joined to the terminus of an apparently intact recipient chromosome. One case exhibited apparent instability of the chromosome rearrangement, resulting in somatic mosaicism. The rearrangements described here differ from the telomeric associations observed in certain tumors, which appear to represent end-to-end fusion of two or more intact chromosomes. The observed interstitial telomeric sequences appear to represent nonfunctional chromosomal elements, analogous to the inactivated centromeres observed in dicentric chromosomes.

Abnormalities, Multiple↗