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PubMed1995

Near-diploid karyotypes with recurrent chromosome abnormalities characterize early-stage endometrial cancer.

Cytogenetic investigation was attempted on 15 endometrial tumors. Whenever possible, a combination of direct harvesting and short-term culture (with or without prior methotrexate synchronization) was used. The analysis was successful in 13 cases: 12 carcinomas of stage I and one atypical hyperplasia. Clonal abnormalities were found in 10 tumors, whereas the remaining three showed a normal karyotype. The modal chromosome number was near-diploid. The abnormal karyotypes contained relatively simple numerical or structural aberrations in all but one tumor, a serous papillary carcinoma with multiple complex changes as well as cytogenetic evidence of intratumor heterogeneity. Gain of 1q, trisomy for chromosomes 2, 7, 10 (this trisomy was shown by in situ hybridization to be present also in a large number of interphase cells), and 12, and loss of chromosome 22 were recurrent aberrations; these are also the cytogenetic anomalies that have been consistently associated with endometrial carcinomas in previous studies. The utilization of both direct harvesting and short-term culture in several cases increased the frequency with which abnormal karyotypes were found; sometimes aberrations were found by the first method but not by the other, and vice versa. Never were different clonal anomalies found by the two approaches in the same case. Synchronization of the cultures generally led to chromosome preparations with more mitoses and of better quality. Again, no different anomalies were found in synchronized and standard cultures from the same tumor.

Chromosome Aberrations↗
PubMed2000

Trisomy/ tetrasomy of chromosome 8 and +i(8q) as the sole chromosome abnormality in three adult patients with myelomonocytic leukemia.

We report three cases of tetrasomy 8 associated with myeloid disease. Two patients had chronic myelomonocytic leukemia (CMMoL) and the other had acute monocytic leukemia (AML M5 FAB). Two patients had trisomy/tetrasomy chromosome 8 as the sole abnormality. The other patient with CMMoL had two normal 8 chromosomes plus one isochromosome 8q; this is the first case of long arm chromosome 8 tetrasomy without short arm 8 monosomy. This cytogenetic finding suggests the importance of the genes located in the long arms of chromosome 8.

Adult↗
PubMed1990

Chromosome abnormalities involving heterochromatic regions in monocytic leukemia.

We report two cases of monocytic leukemia associated with cytogenetic changes involving the juxtacentromeric heterochromatin of different chromosomes. In a patient with chronic myelomonocytic leukemia (CMMoL) we describe a translocation t(1;9)(q12;q13) in which the duplicated derivative chromosome 9q + showed a huge centromeric C-band, derived by fusion of the heterochromatic regions of chromosomes 1 and 9. The constitutional karyotype showed two heterochromatin polymorphisms, 1qh + and inv(9qh). In the second case, an acute monoblastic leukemia was associated with an abnormally elongated juxtacentromeric heterochromatic region of chromosome 4 that was not constitutionally present.

Bone Marrow↗
PubMed2002

Ewing's tumour: novel recurrent chromosomal abnormalities demonstrated by molecular cytogenetic analysis of seven cell lines and one primary culture.

Conventional cytogenetics has led to the identification of the primary t(11;22)(q24;q12) translocation in the Ewing's family of tumours, and to the demonstration of certain recurring secondary aberrations that may contribute to neoplastic progression. Other important cytogenetic abnormalities may previously have been overlooked due to the limited resolution of chromosome banding. Here, we have applied the molecular cytogenetic techniques of spectral karyotyping, multiplex-fluorescence in situ hybridisation and comparative genomic hybridisation to the characterisation of seven Ewing's tumour cell lines and one primary culture. These complementary techniques have enabled us to produce a detailed description of the karyotypes of the cell lines and to demonstrate recurring numerical and structural abnormalities. In particular, we have identified a novel, unbalanced translocation involving chromosomes 16 and 17 in three of eight samples, including the primary culture. The unbalanced translocation was associated with comparative genomic hybridisation evidence of loss of 16q and 17p, copy number imbalances that were seen in five and four of the eight samples respectively. Recurrent breakpoints at 16p11.2, 16q11.1, 17p11.2 and 17q11.2 were identified. Our findings indicate that chromosomes 16 and 17 should be investigated further in the search for genes involved in the development of Ewing's family tumours.

Chromosome Aberrations↗
PubMed1993

Interstitial deletion of the short arm of chromosome 3 as a primary chromosome abnormality in carcinomas of the breast.

Interstitial deletions of the short arm of chromosome 3 were found in short-term cultures of five breast carcinomas (of 41 breast cancers with clonal aberrations analyzed by us during the same period). They were the only clonal structural change in three tumors; in the remaining two, the clone with 3p-coexisted with seemingly unrelated clones that had other structural and numerical aberrations. The deletions were identical, del(3)(p12p14), in four cases. The fifth tumor seemed to have a smaller deletion, interpreted as del(3)(p13p14). Our findings constitute karyotypic evidence that 3p deletions are relatively common in breast carcinomas and concur with the molecular genetic detection of loss of heterozygosity in this chromosome arm. The fact that the deletions were found as solitary changes indicates that loss of genetic information from 3p loci is an early, possibly primary, event in tumorigenesis.

Adenocarcinoma, Mucinous↗
PubMed1995

Non-11p constitutional chromosome abnormalities in Wilms' tumor patients.

The incidence in Wilms' tumor patients of constitutional chromosome defects other than those involving the short arm of chromosome 11 was examined using data on 5,854 patients registered in the National Wilms Tumor Study. Trisomy 18 and Turner syndromes were found to occur at higher rates than expected based on chromosome surveys of newborns. Four patients were reported to have trisomy 18; all of these patients were over 5 years of age at the time of diagnosis of Wilms' tumor and none survived longer than six months. Four patients were reported to have Turner syndrome; these patients are currently doing well and have all survived at least 3 years following diagnosis. Two of the Turner patients and one of the trisomy 18 patients had horse-shoe kidneys; we speculate that this renal anomaly may contribute to the higher rates of tumor in these patients. No clear pattern was found among patients with other chromosome defects, although two patients had defects involving 2q37.

Adolescent↗
PubMed1994

Chromosome abnormalities in breast fibroadenomas.

Cytogenetic analysis of 25 breast fibroadenomas (FA) showed clonal chromosome alterations in three cases. Insertion (12;?) (q15;?) and deletion (2) (q14q31 or q32) were detected as a sole change in cases 1 and 3, respectively. Case 2 displayed the karyotype 45,XX,t(1;8;16)(q25;q23;q22-23), add (7)(p14), rea(15), -17. The present findings are discussed together with the reports on FA in the literature.

Adolescent↗
PubMed1986

[Fetal neck edema--early sonographic indications of a chromosome abnormality].

Fetal nuchal edema is described as an early sonographic sign of a chromosomal anomaly. Eight cases of fetal nuchal edema were detected by sonography, and for this reason the fetal karyotypes were established by means of rapid karyotyping. Trisomy 21 (Down's syndrome) and the 45,XO constellation (Turner's syndrome) were most commonly found. In one case with trisomy 21, only a temporary occurrence of fetal nuchal edema could be identified. The pathogenesis of fetal edemas is discussed. If the likelihood of pathologic conditions can be ruled out by sonography, differentiated counseling for antenatal diagnosis is possible.

Abortion, Induced↗
PubMed2001

High incidence of emergency cesarean section among fetuses with unrecognized chromosomal abnormalities.

OBJECTIVE: To examine the incidence of obstetric complications in fetuses with unrecognized chromosomal anomalies compare with those in which the diagnosis was known before hand. METHODS: All cases followed at a private facility in San Juan, PR during the time from January 1993 through February 1997 were evaluated in terms of gestational age and method of diagnosis and eventual pregnancy outcome. RESULTS: There where 9 cases of chromosomal anomalies documented by karyotype analysis among 1377 (0.65%). Among this group, 5 cases were detected by a combination of maternal serum screening, analysis of risk factors and sonography. Among these, 3 cases elected pregnancy termination, one case of trisomy 21 was delivered stillborn vaginally at 32 weeks and one case of trisomy 18 delivered vaginally at 29 weeks. Among the 4 cases not recognized prenatally, one case of trisomy 21 was delivered at 27 weeks by classical cesarean section due to malpresentation and 3 cases (2 of trisomy 18 and one trisomy 21) where delivered by emergency transverse cesarean section due to suspected fetal hypoxia. CONCLUSIONS: The very high frequency of emergency cesarean section (100%) among fetuses with unrecognized major chromosomal anomalies should make us increase our efforts to obtain at prenatal diagnosis. In all of these cases, a prior diagnosis would have probably avoided a cesarean section and the associated potential maternal morbidity. PRECIS: The high incidence of emergency cesarean section among fetuses with unrecognized chromosomal anomalies should make prenatal diagnosis of these conditions a primary goal.

Adult↗
PubMedDate not supplied

[Contribution of molecular cytogenetics in the diagnosis of chromosomal abnormalities].

Molecular cytogenetic approaches based on fluorescence in situ hybridization (FISH) with chromosome-specific probes have been increased in recent years. They become a powerful tool for chromosomal diagnosis in prenatal, constitutional and cancers genetic disorders. In fact, various procedures are now available to rapid identification of numerical and structural chromosome aberrations that escape to conventional chromosome banding analysis. Here, contribution of molecular cytogenetic approaches for diagnosis of disease related chromosomal changes are presented and discussed.

Chromosome Aberrations↗
PubMed1988

[Male infertility with chromosomal abnormalities. III. 46, XYq-].

A deletion of the long arm of the Y chromosome (46,XYq-) was found in two cases with normal male habitus but with azoospermia. The first case was of a 28-year-old married man, an office worker, complaining of infertility. His height was 153 cm, weight 57 kg and distance of extended hand 152 cm. Both testes were 13 ml in size. The second case was a 32-year-old married man, a fireman, complaining of infertility. His height was 160 cm, weight 64 kg and distance of extended hand 161 cm. Both testes were 10 ml in size. In each case, the external genitalia showed a normal male type, but azoospermia was identified in semen analysis. The testicular biopsy specimens revealed spermatogenic arrest with thickening of basement membrane. Chromosomal analysis showed 46,XYq- karyotype. Basal serum levels of luteinizing hormone and follicle-stimulating hormone were slightly elevated and the serum testosterone level was within normal limits. Eight cases of 46,XYq- karyotype in the Japanese literature including our cases were reviewed.

Adult↗
PubMed1985

Chromosome abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases.

Sixty-six psychotic children aged between two and 20 years, examined by the same child psychiatrist and diagnosed according to strict criteria as suffering from infantile autism, other psychoses and Asperger's syndrome, were examined with chromosomal cultures in folic-acid deficient medium. 47 per cent of the children showed major or minor chromosomal aberrations. The infantile autistic group comprised a total population of autistic children. The fra(X)(q27) marker was seen in 25 per cent of autistic boys. A subgroup of children with the fra(X)(q27) abnormality, infantile autism, psychomotor epilepsy and brainstem dysfunction was identified. Other chromosome markers and abnormalities occurring in several cases included long Y chromosomes, fra(X)(p22), fra(16)(q23) and fra(6)(q26). The results are discussed and correlated with certain clinical characteristics.

Adolescent↗
PubMed1998

Increased chromosome abnormalities in human preimplantation embryos after in-vitro fertilization in patients with recurrent miscarriage.

Recurrent miscarriage is a pathological condition induced by maternal and embryonic causes. This paper describes a prospective study to determine the real incidence of aneuploidy for autosomes 13, 16, 18, 21, 22, and gonosomes in preimplantation human embryos obtained from patients with recurrent pregnancy loss after ovarian stimulation in an IVF-ET programme. Our results indicate that aneuploidy for the chromosomes analysed are abnormally higher in embryos obtained after IVF from recurrent abortion patients (58%) compared to non-recurrent abortion patients undergoing IVF. Furthermore, monosomies are six times more frequent than trisomies (47:8) in preimplantation embryos from recurrent abortion patients. Based on the present study, preimplantation genetic diagnosis (PGD) of embryos obtained from patients with recurrent miscarriage could prove advantageous in diagnosing abnormal embryos and selecting normal embryos for transfer.

Abortion, Habitual↗
PubMed1984

[The frequency of chromosome abnormalities in farm animals and their economic consequences].

Examinations during the last two decades of the chromosome complements of various species of domestic animals have revealed the existence of a considerable number of abnormalities, including inherited rearrangements: approximately 20 in cattle, 15 in pigs (predominantly reciprocal translocations), 3 in sheep, 2 in horses (predominantly monosomy X), and 1 in goats. (The accumulation of data on the frequency of such abnormalities and evaluation of their effects on reproductive performances of carriers of inherited rearrangement depends on a number of factors including the use of artificial insemination, number or progeny per sire or dam, and differences in generation intervals of the species concerned). The economic value of the cytogenetic findings depends on the degree of exchange of information between the breeders and the cytogenetics laboratories. An example of a successful collaboration is a Swedish study of a centric fusion translocation in Swedish Red and White cattle, one that affects chromosomes 1 and 29. There, the fertility-reducing effects of the translocation led to a loss of approximately $250,000. Recognition of the significance of the translocation prompted a search for carrier bulls and their elimination from the artificial insemination units. In swine, in which artificial insemination is used much less than in cattle, data on the frequency of reciprocal translocations in general must be obtained from the farms themselves. The main effect of an inherited chromosome rearrangement is a reduction in the number of offspring, perhaps to 50%, i.e., five piglets per litter.(ABSTRACT TRUNCATED AT 250 WORDS)

Animal Husbandry↗