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PubMed1997

[Chromosomal abnormalities in male gametes].

Most of the human chromosomal abnormalities seems to be of a germ-cell origin. Human oocytes are difficult to obtain and to handle, so most of the studies has been performed on male gametes. Genetic status of spermatozoa may be critical for human reproduction as well as wellbeing of fetus. The ability to identify and to characterize chromosomal aberrations in human sperm would lead to understanding of the mechanism causing chromosomal abnormalities and to approach possible preventive strategies. The aim of this paper was to present current data concerning the chromosomal aberations in human spermatozoa. Presented overview strongly underlines the importance of genetic investigations of male gametes.

Adult↗
PubMed2003

Chromosomal abnormalities as a cause of recurrent abortions: a hospital experience.

OBJECTIVE: To analyze the chromosomal abnormalities in couples with history of recurrent abortions. DESIGN: Retrospective study. SETTING: Cytogenetic section, Department of Pathology at the Aga Khan University Hospital, Karachi, Pakistan. PATIENTS: Three hundred couples with history of recurrent abortions. MAIN OUTCOME MEASURE: Structural chromosomal abnormalities in carrier couples. RESULTS: G-banded chromosomes were analyzed from both partners of 300 couples who had had two or more spontaneous abortions. Sixteen (5.3%) couples showed a chromosomal aberration in one of the partners. Seven translocations, 5 inversions, 2 deletions and 2 sex chromosomal abnormalities were identified. There was an increase in structural aberations, which was not significantly different from that reported worldwide. CONCLUSION: Chromosomal analysis is advocated as a primary tool in the evaluation of couples with repetitive fetal wastage.

Abortion, Habitual↗
PubMed2004

Chromosome abnormalities may correlate with prognosis in Burkitt/Burkitt-like lymphomas of children and adolescents: a report from Children's Cancer Group Study CCG-E08.

Among pediatric non-Hodgkin lymphomas, the most frequent type is small noncleaved-cell lymphoma (including Burkitt and Burkitt-like). Specific chromosome abnormalities are associated with prognosis in childhood acute lymphoblastic leukemia (ALL); however, chromosome abnormalities have not been evaluated for prognostic value in pediatric Burkitt and Burkitt-like lymphomas. For Children's Cancer Group protocol CCG-E-08 Etiologic Study of Non-Hodgkin Lymphoma in Childhood, 19 patients were enrolled with cytogenetic analysis of Burkitt or Burkitt-like lymphoma and simultaneously enrolled on treatment protocols CCG-503 or CCG-552. Pathology material and karyotypes at initial diagnosis underwent central review. Demographics included an age range of 2 to 14 years (median 8 years) and a male:female ratio of 14:5. All patients had advanced disease (stages III and IV, or ALL). Disease relapsed in five patients (event-free survival 74%, median follow-up 10.4 years). Chromosome abnormalities were identified in 18 patients (95%) including t(8;14)(q24.1;q32) in 12 (63%); t(8;22)(q24.1;q11.2) in 1 (5%); partial duplication of 1q in 7 (37%); and 13q32 abnormalities in 2 (11%). In patients who had relapses, in addition to the t(8;14)(q24. ;q32), two had abnormalities of 13q32 and two had partial duplication of 1q. CMYC translocations were absent in Burkitt-like lymphomas from all three patients. Burkitt and Burkitt-like lymphomas in children have a high frequency of chromosome abnormalities. Burkitt lymphoma abnormalities often involve CMYC translocations, usually a t(8;14)(q24.1;q32). Additional chromosome abnormalities that involved 13q32 and partial duplication of 1q were associated with poor prognosis. Burkitt-like lymphomas were not associated with CMYC translocations. Further studies are warranted in larger cohorts of children and adolescents with Burkitt and Burkitt-like lymphomas.

Adolescent↗
PubMed2005

The identification of chromosome abnormalities associated with the invasive phenotype of uveal melanoma in vitro.

Tumour cell cultures are often highly heterogeneous, containing sub-populations of cells with differing characteristics. To identify chromosome abnormalities that are associated with the invasive phenotype, we isolated highly invasive uveal melanoma cell populations using the Transwell assay. Using this invasion assay, invasive sub-populations of primary uveal melanoma short-term cultures, and an established cell line, were specifically isolated. A series of sequential assays were undertaken to enrich the invasive population, and the enhanced invasive ability was confirmed by Transwell invasion assay. Chromosome abnormalities in invasive and parental cells were identified by karyotyping and confirmed by comparative genome hybridisation. Invasive sub-populations of uveal melanoma cells were isolated from 3 uveal melanoma short term cultures and a uveal melanoma cell line. In all cases, invasive sub-populations had either acquired additional chromosome abnormalities to those present in the parental cell line, or other abnormalities present in the parental lines were lost. In the established cell line (SOM 157), invasive cells were characterised by widespread chromosomal instability, frequent telomere associations and additional copies of chromosome 20. The invasive phenotype of SOM 196 associated with the presence of a derivative chromosome 5, der(5)t(5;11)(q35;q12) whilst a translocation t(17;20)(q12;q13) was predominant amongst non-invasive cells. In two additional cultures, deletions on chromosome 6q were associated with reduced invasive ability. In conclusion, highly invasive populations of uveal melanoma cells demonstrate chromosomal abnormalities that differ from non-invasive cells. These include chromosome instability and abnormalities of chromosome 20, observations echoing those seen in metastatic uveal melanoma.

Chromosome Aberrations↗
PubMed1990

Elevated maternal serum alpha-fetoprotein concentration and fetal chromosomal abnormalities.

Amniocentesis was performed in 1038 patients with elevated maternal serum alpha-fetoprotein (MSAFP) concentrations. Patients were divided into two groups based upon the amniotic fluid AFP concentration. Group 1 (N = 964) had a normal amniotic fluid AFP concentration and group 2 (N = 74) had elevated amniotic fluid AFP. Fetal chromosomal results were reviewed from the study population, with the finding of eight major fetal chromosomal abnormalities. Of the eight fetal chromosomal abnormalities, five were associated with elevated amniotic fluid AFP and three were associated with normal amniotic fluid AFP. The sensitivity and specificity of elevated amniotic fluid AFP concentrations in screening for a fetal chromosomal abnormality were 62.5 and 93.3%, respectively. In women with elevated MSAFP but normal amniotic fluid AFP concentrations, the probability of a major fetal chromosomal abnormality is extremely small.

Amniocentesis↗
PubMed2004

Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan.

OBJECTIVE: We determined the incidence of specific chromosome abnormalities in this Japanese population so that comparisons could be made to the incidence of chromosome abnormalities reported for other populations. METHODS: A total of 423 cases of products of conception aborted spontaneously were collected for cytogenetics analysis from various medical sites located in Japan. The cytogenetic results, along with clinical information including gestational age at the time of the miscarriage and maternal age, were compiled in a database. The incidence of specific chromosome aberrations was determined. The abnormalities were separated by gestational age at the time of the miscarriage and by maternal age. RESULTS: The total number of specimens available for cytogenetic analysis was 407. Cytogenetic results were obtained for 347 cases (85.3%), of which 196 (56.5%) showed chromosome abnormalities. Autosomal trisomy was detected in 120 cases (61.2% of the abnormal cases). Trisomy for each autosome, with the exception of chromosomes 1, 5, 6, 11, 12, and 19, was identified. The most common autosomal trisomy was that of chromosome 16 (30 cases), followed by trisomy 21 (13 cases), and trisomy 22 (13 cases). Eight cases showed double trisomies, and one case showed trisomy for three different chromosomes. Two cases showed monosomy 21, and 24 cases showed 45,X. Triploidy was identified in 27 cases and tetraploidy was detected in five cases. Unbalanced structural rearrangements were found in 11 cases, and balanced translocations were identified in two cases. Six cases showed mosaicism: three cases showed a normal cell line; and three cases had multiple abnormal cell lines. Separating the trisomies by the gestational age at which time the miscarriage occurred revealed that trisomies 7, 8, 14, 15, 16 and 22 occurred exclusively during the first trimester and fetuses with trisomies 4, 13, 18 and 21 survived late into the second trimester. CONCLUSION: Overall patterns of chromosome abnormalities detected in spontaneous abortions in Japan were similar to those reported in the literature.

Abortion, Spontaneous↗
PubMed1969

Chromosome abnormalities in patients with syndactyly.

Chromosome studies on 105 patients with syndactyly included two trisomy-21 mongols, a chromatin-positive boy with 47, XXY, a chromatin-negative short girl with 45,X0 and a boy with a familial D/D translocation. Chromosome patterns were normal in the other cases which included three patients with acrocephalosyndactyly and one patient with oro-facial-digital syndrome.The incidence of chromosome abnormalies was greater than expected since syndactyly of the fingers is uncommon in the chromosome disorders.THIS INCIDENCE MAY BE RELATED TO THE INCREASED MATERNAL AGE (MEAN: 29.4 years) of the syndactyly group compared to maternal age (mean: 26.64 years) of the control group although, paradoxically, four mothers of the five patients with chromosome abnormalities were young.

Child↗
PubMed2005

Epilepsy in chromosomal abnormalities: an Italian sample.

Epilepsy is common in chromosomal abnormalities, but systematic studies are scanty. We describe an Italian sample of patients with chromosomopathies to establish epilepsy occurrence and clinical electroencephalographic (EEG) features. Forty-five patients with different types of chromosomal abnormalities were analyzed to examine different variables in patients with epilepsy (group 1) and without (group 2) and to compare the types of epilepsy in our cases with respect to a nonselected sample of Italian people with epilepsy. Epilepsy occurred in 51.1% (group 1) of cases and prevailed in autosomal abnormalities but without a statistical significance (P > .05). There was a prevalence of EEG paroxysmal abnormalities in group 1 (P < .0001); continuous spike-waves during sleep were observed in three cases. Profound mental retardation prevailed in group 1 (P < .001) and mild mental retardation in group 2 (P < .05). Generalized epilepsies prevailed significantly (P < .00001). A high-resolution karyotype should be undertaken in all patients with epilepsy presenting with mental retardation when an obvious etiology is not available.

Adolescent↗
PubMed1983

Chromosome abnormalities in chronic myeloid leukemia in children.

Banded chromosomes of leukemic cells were studied in 53 children with chronic myeloid leukemia (CML). Ph1 chromosome was found in 21 children, and the remaining 32 cases were Ph1 negative. Besides Ph1 translocation additional chromosomal abnormalities, including marker i(17q), were revealed in three of eight children studied in blastic crisis of Ph1 positive CML. Leukemic cells of most patients with Ph1 negative CML possessed normal karyotype. Clones with chromosomal abnormalities were found in 12 of 32 cases. Most characteristic were monosomy 7 (in four children) and trisomy 8 (in three). Abnormal karyotype may be a bad prognostic sign in Ph1 negative CML. The presented data confirm the difference in age of appearance, bone marrow pattern and clinical course between Ph1 positive ("adult") and Ph1 negative (juvenile) types of CML in children. Probable prenatal commencement of CML in babies and children in the first years of life is discussed.

Adolescent↗
PubMed2005

Investigation of chromosome abnormalities and early embryonic mortality in goose lines.

Early embryonic mortality and chromosome abnormalities were studied in three goose lines: Grey Landes (line 7), White Polish (line 4) and their synthetic line (line 9). Eggs laid at the beginning, in the middle and at the end of the laying season were set. At candling at 5th day after egg set, all eggs (2847) were examined and those showing no normal embryonic development were opened 2847. Dead embryos were classified phenotypically and karyotyped. The mean ratio of embryonic mortality (EM) among fertile eggs was 9.4%, 5.2%, 7.3% in the lines 4, 7 and 9, respectively. The mean ratio of embryos with chromosomal abnormalities (CA) among the dead embryos was 8.0%, 14.8% and 13.1% in the lines 4, 7 and 9, respectively. Gander effect and layer within gander effect on embryo mortality were significant, indicating genetic factors. Father and mother of the layer effects were also significant, showing family effects. Animals producing dead embryos and embryos with chromosome abnormalities in high proportion were selected. In the selected groups the mean EM was 17.7-22.9%, and the mean CA was 11.7-34.7% among the three lines. The repetition of CA was not observed in the reproductive season of following year, while animals repeated the high EM (repeatability coefficient of 0.54). This shows that some part of EM may be resulted from other genetic factors. Ganders and layers progeny of these selected animals showed also high EM. It was concluded that culling pairs giving high EM value in their embryos could increase the average level of embryo viability and that the study of genetic determinism of that trait should be continued in geese.

Animals↗
PubMed1991

[Value of ultrasonic diagnosis of fetal malformations in the detection of chromosomal abnormalities].

We report 118 foetal karyotypes studied on the basis of ultrasonographic warning signs which appeared in pregnancies with no significant risk of chromosomal abnormalities, judging from the personal and familial histories. Foetal karyotyping was performed either in amniotic fluid (AF) or in foetal blood. The ultrasonographic warning signs fell into 3 categories: (1) intrauterine growth retardation (IUGR) which was harmonious and below the 5th percentile, without foetal malformation at ultrasonography and without maternal cause (doppler examination, normal Pourcelot's index): 30 cases (24.4%). IUGR was isolated in 22 cases and associated in 8 cases with abnormal amounts of amniotic fluid: oligoamnios 6, hydramnios 2; (2) Isolated abnormality of AF volume: 22 cases (18.8%); hydramnios 19 and oligoamnios 3; (3) Foetal malformations in 66 cases (56%), including 16 central nervous system malformations, 4 cystic hygromas, 10 urinary tract malformations, 9 foetal effusions, 9 abdominal wall abnormalities, 7 gastrointestinal malformations, 5 malformations of the limb and 3 cardiac malformations. The mothers' mean age was 27.5 +/- 4.5 years; the mean term of pregnancy at the time of foetal karyotyping was 28 +/- 6.5 AW. In 51% of the cases the ultrasonographic warning sign was discovered after 29 AW. Among the 118 foetal karyotypes studied, 12 chromosomal abnormalities (10.6%) were detected. During the same period, 712 foetal karyotypes were studied in women aged 38 or more and 18 chromosomal abnormalities (2.53%) were detected. This study confirms that more chromosomal abnormalities can be detected by ultrasonographic warning signs than by relying on the mother's age which is the most frequent reason for foetal karyotype studies. Ultrasonography performed during the second trimester of pregnancy is of value to evaluate foetal growth and the amount of AF and to investigate for possible foetal malformations.

Adult↗
PubMed2006

MicroRNAs and chromosomal abnormalities in cancer cells.

Over the past five decades, a plethora of nonrandom chromosomal abnormalities have been consistently reported in malignant cells facilitating the identification of cancer-associated protein coding oncogenes and tumor suppressors. The genetic dissection of hot spots for chromosomal abnormalities in the age of the sequenced human genome resulted in the discovery that microRNA (miRNA) genes, encoding for a class of small noncoding RNAs, frequently resides in such genomic regions. The combination of nonrandom chromosomal abnormalities and other types of genetic alterations or epigenetic events contribute to downregulation or overexpression of miRNAs. The consequent abnormal expression of miRNAs affect cell cycle, survival and differentiation programs and selective targeting of these noncoding genes could provide novel therapeutic options for killing the malignant cells.

Chromosome Aberrations↗
PubMed1986

Frequency of chromosomal abnormalities in embryos from superovulated merino ewes.

Chromosomal analysis was carried out on 48 Day 2-7 embryos collected from superovulated Merino ewes. Three embryos had abnormal chromosome complements (1 X 1N, 1 X 1N/2N, 1 X 3N), yielding an incidence of 6.25% abnormal embryos. It is concluded that superovulation does not cause an increase in the incidence of chromosomal abnormalities in embryos of Merino sheep.

Animals↗
PubMed1984

A further study on quicker re-entry of chromosomally abnormal cells to active proliferation and preferential death of chromosomally normal cells during ageing of specimens in acute myeloid leukemia (AML).

Quicker re-entry of chromosomally abnormal cells to active proliferation under culture conditions was observed in cultured peripheral blood samples, old or fresh, but not in cultured bone marrow samples. In 10 patients with AML studied using peripheral blood, the mitotic index (MI) rose after 24 h in culture and reached a peak after 48 h in culture in AA patients (with all abnormal karyotypes); the MI rose after 24 h in culture and reached a peak after 48, 72 or 96 h in culture in AN patients (mixed normal and abnormal karyotypes); the MI remained at much lower level until after 72, 96 or 120 h of culture in NN patients (all normal karyotypes). The MI at 24 and 48 h of culture was significantly higher in AN and AA patients than in NN patients. A significantly increased frequency of chromosomally normal cells after prolonged culture was observed in one patient with t(8;21). The results of this study also suggest that chromosomally normal cells are more likely to die off than are abnormal ones during ageing of specimens.

Aneuploidy↗
PubMed1976

Cancer in a familial IgA deficiency patient: abnormal chromosomes and B lymphocytes.

Two primary cancers were found in a patient with a familial IgA deficiency. Although cytogenetic studies showed nonconsistent pseudodiploid chromosomal pattern in the peripheral blood lymphocyte cultures, there were two metaphases with a deleted short arm of an E (17-18) chromosome and several metaphases with an abnormally large chromosome, larger than chromosome number 1. Also, there were 37 B lymphocytes per mm3 in her peripheral blood which was much lower than other radiation-treated cancer patients. The absence of IgA, the decrease of peripheral B lymphocytes and the chromosomal abnormality might have played a role in her developing the cancers.

Adenocarcinoma↗
PubMed2002

Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia.

Research over the past few years has clearly demonstrated that infertile men have an increased frequency of chromosome abnormalities in their sperm. These studies have been further corroborated by an increased frequency of chromosome abnormalities in newborns and fetuses from pregnancies established by intracytoplasmic sperm injection. Most studies have considered men with any type of infertility. However, it is possible that some types of infertility have an increased risk of sperm chromosome abnormalities, whereas others do not. We studied 10 men with a specific type of infertility, asthenozoospermia (poor motility), by multicolor fluorescence in situ hybridization analysis to determine whether they had an increased frequency of disomy for chromosomes 13, 21, XX, YY, and XY, as well as diploidy. The patients ranged in age from 28 to 42 yr (mean 34.1 yr); they were compared with 18 normal control donors whose ages ranged from 23 to 58 yr (mean 35.6 yr). A total of 201 416 sperm were analyzed in the men with asthenozoospermia, with a minimum of 10 000 sperm analyzed per chromosome probe per donor. There was a significant increase in the frequency of disomy in men with asthenozoospermia compared with controls for chromosomes 13 and XX. Thus, this study indicates that infertile men with poorly motile sperm but normal concentration have a significantly increased frequency of sperm chromosome abnormalities.

Adult↗
PubMed1991

Chromosome abnormalities detected in chorionic villus biopsies of failing pregnancies in a subfertile population.

OBJECTIVE: To determine the range and prevalence of chromosomal abnormalities occurring in failing pregnancies in subfertile women. DESIGN: Prospective biochemical and ultrasound monitoring of all pregnancies conceived between 1988 and 1990 in a subfertile population. SETTING: A single-centre specialist fertility clinic in Perth, Western Australia. SUBJECTS: Tissue from 50 early pregnancy losses was successfully cultured for chromosomal analysis from 46 pregnancies comprising 29 anembryonic pregnancies, 9 miscarriages and 8 ectopic pregnancies. MAIN OUTCOME MEASURES: Impending pregnancy loss was identified at an early stage. Chromosomal analysis was performed on chorionic villi obtained before the diagnosis became clinically evident. RESULTS: Significant chromosomal abnormalities were identified in 54% (14/26) of early pregnancy losses where gamete manipulation was involved and 45% (9/20) of those following spontaneous conception. The most common abnormalities were trisomies (12 pregnancies, mainly trisomy 16), triploidies (3 pregnancies) and monosomy X (3 pregnancies). An excess of female fetuses was noted with only 24% of conceptuses (11/46) bearing a Y chromosome. CONCLUSIONS: The data indicate a similar rate of chromosomal abnormalities underlying pregnancy losses at earlier stages of pregnancy and after infertility treatments as that reported from the general population. Gamete manipulation does not appear to confer a higher rate of chromosomal abnormalities in ensuing pregnancies.

Adult↗
PubMed1994

Selective birth in twins with discordant chromosomal abnormality.

Selective termination in twin pregnancies with a chromosomal abnormality in one twin may be offered to prevent long-term suffering for the infant and/or the family. The procedure poses considerable risks to the remaining fetus and also to the mother, and these, together with the ethical aspects, should be discussed thoroughly with the couple. We report 2 successful cases of selective midtrimester termination by intracardiac potassium chloride injection, and recommend a management protocol for selective birth in twins with discordant chromosomal abnormalities.

Abortion, Therapeutic↗