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PubMed1991

Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1.

A consistent degree of chromosome instability was found in cultured lymphocytes and in fibroblasts derived from skin biopsies of three patients with multiple endocrine neoplasia type 1 (MEN1). In both tissues, there was a significant increase in chromosomal breakage. Dicentrics and tricentrics, rings, translocations, deletions, acentric fragments, and presumptive double minutes were the most frequent abnormalities in lymphocytes. The fibroblasts of two patients had large clones consisting of trisomy 7 and trisomy 18 cells, respectively.

Adult↗
PubMed1998

Detection of numerical chromosome abnormalities in human spermatozoa by three-color fluorescence in situ hybridization.

Three-color fluorescence in situ hybridization (FISH) was used to detect numerical X, Y, and 17 chromosomal aberrations in human sperm nuclei. Digoxigeninlabeled alpha satellite chromosome X-specific probe DXZ1, biotin-labeled classical satellite chromosome Y-specific probe DYZ1, and biotin plus digoxigenin-labeled alpha satellite chromosome 17-specific probe D17Z1 were simultaneously hybridized to sperm preparations from donors with normal semen (group A) and abnormal semen (group B) characteristics. The proportions of haploid X, Y, 17 and disomy, diploidy of them before and after swim-up were determined. At least 3,000 sperm were analyzed for each sample. Overall, up to 98% of sperm were labeled with the probes, and all statistical analyses were performed using chi 2 tests. A significant difference was observed between group A and group B in frequency of sex chromosome disomy (p < 0.05). In group B, there were significant differences in frequencies of sex chromosomes disomy (p < 0.05) and diploidy (p < 0.01) before to after swim-up. There was no significant difference in frequency of disomy 17 between the 2 groups. In group A and B, the ratios of X- to Y-bearing sperm were 1:1 (neat semen), but in both groups there was a significant increase in Y-bearing sperm after swim-up. The results of this study demonstrated that abnormal semen has sex chromosome disomy more frequently than does normal semen and that portion of sex chromosome disomic and diploid sperm is removed by swim-up, especially for abnormal semen. These findings suggest that we should be careful in using abnormal semen for IVF, especially for ICSI, and should perform swim-up if possible.

Chromosome Aberrations↗
PubMed2006

Translocation (3;8)(q26;q24): a recurrent chromosomal abnormality in myelodysplastic syndrome and acute myeloid leukemia.

We identified a reciprocal translocation between chromosomes 3 and 8, with breakpoints at bands 3q26 and 8q24, in five patients with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). The t(3;8)(q26;q24) was the sole cytogenetic aberration in two patients, was associated with trisomy 13 in one patient, and occurred with monosomy 7 in two patients. In three patients, the AML or MDS developed 36, 52, and 57 months following chemotherapy for soft tissue sarcoma, mantle cell lymphoma, and diffuse large B-cell lymphoma, respectively; in these three patients, the neoplasms were considered to be therapy-related. All five patients displayed marked trilineage dysplasia and variable degrees of cytopenias, with marked thrombocytosis noted in one patient and a normal platelet count in another patient. All patients were treated with combination chemotherapy; at writing, four were still alive and one had died during a follow-up period ranging from 1 to 16 months. We conclude that the t(3;8)(q26;q24) is a recurrent translocation associated with therapy-related MDS/AML or de novo AML, and is frequently associated with monosomy 7.

Acute Disease↗
PubMed1999

Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads.

We report two female patients with gonadal dysgenesis and sex chromosome mosaicism involving the Y chromosome. Conventional karyotyping was supplemented with fluorescent in situ hybridisation techniques in order to confirm the presence of Y chromosomes. One patient is a phenotypic female with karyotype 45,X/46,X,idic(Y)(q11.2). She underwent a laparoscopic gonadectomy at which streak ovaries without evidence of gonadoblastoma were removed. The second patient presented as a virilised female with karyotype 45,X/47,XYY. At laparoscopy, she was found to have mixed gonadal dysgenesis with a gonadoblastoma in situ. We recommend early gonadectomy in female children presenting with gonadal dysgenesis and the presence of a Y chromosome although once the gonadoblastoma locus on Y chromosome gene has been cloned it may be possible to identify those patients who have a low risk of developing gonadoblastoma.

Child, Preschool↗
PubMed1990

[Cost-benefit analysis of amniocentesis in the prenatal diagnosis of chromosome abnormalities].

The article presents a cost-benefit analysis of amniocentesis for detection of chromosomal anomalies based on data (1985/87) collected in the Marseille area. In this geographic area, it is possible to confront, in an exhaustive manner, pregnant women's access to amniocentesis and incidence of fetal anomalies due to chromosomal aberrations. Results show that prenatal diagnosis is highly cost-beneficial, the average cost of one "avoided" case of Down's syndrome being lower than the lifelong costs of care for such a child. However, the study emphasizes that the cost-benefit ratio is highly sensitive to the implicit value society affects to the loss of "normal" fetuses through spontaneous abortions provoked by amniocentesis and because of terminations of pregnancy following diagnosis of minor fetal anomalies. The study also shows that lowering maternal age limit for access to free-of-charge amniocentesis from the current 38 years of age to 35 would have been cost-beneficial. Such lowering of the maternal age limit is discussed and compared with other indications which might be used for systematic access to amniocentesis.

Amniocentesis↗
PubMed1997

Interphase cytogenetics of prostatic tumor progression: specific chromosomal abnormalities are involved in metastasis to the bone.

Only limited data are available on chromosomes specifically involved in the multistep tumorigenesis of prostate cancer. To investigate the cytogenetic status at different stages of prostatic tumor development, we have applied interphase in situ hybridization (ISH) with a set of (peri) centromeric DNA probes--specific for chromosomes 1, 7, 8, and Y--to routinely processed tissue sections of prostatic specimens from 75 different individuals. Our panel consisted of: 16 normal/benign prostatic hyperplasia specimens; 23 primary, localized, prostatic tumors (N0M0 stage); 20 regional lymph node metastases (M0 stage); and 16 distant metastases. Numerical aberrations of at least one chromosome were not observed in normal/benign prostatic hyperplasia cases, but were present in localized tumors (39%), regional lymph node metastases (40%), and distant metastases (69%). Within the different pTNM groups, we observed the following aberrations (listed, within each series, in decreasing order of frequency): -Y, +8, -8, +7 in primary tumors; +8, +7, -Y, +Y, -8 in regional lymph node metastases; and +8, +7, +1, -Y, -8 in distant metastases. In primary tumors, the number of aberrant cases increased significantly with local tumor stage (p < 0.05). A significant increase in gain of chromosome 8 was also observed (p < 0.02). Gain of chromosome 7 and/or 8 showed a significant increase with progression of local tumor stage (p < 0.02). Specific involvement of chromosome 8 was seen in bone metastases, but not in hematogenous metastases to other sites (p = 0.02). Comparative genomic hybridization analysis of these bone metastases disclosed centromere 8 gains as amplifications of the (whole) 8q arm, whereas centromeric loss appeared to be due to loss of 8p sequences. With progression toward metastatic disease, an accumulation of genetic changes was seen as exemplified by gain of chromosome 1, which was solely observed in distant metastases. With tumor progression, gain of chromosomes 7 and/or 8 significantly increased (p = 0.03), whereas the number of cases with aberrations of the Y chromosome did not change. Furthermore, ploidy status determined by ISH revealed a significant increase in the number of aneuploid cases along with advancement of pTNM stage (p = 0.04). Collectively, the data strongly suggest that: (a) gain of chromosome 7 and/or 8 sequences is implicated in prostatic tumor progression; (b) gain of chromosome 8 sequences is related to local tumor growth; (c) overrepresentation of 8q sequences, most likely by isochromosome 8q formation, is involved in metastatic spread to the bone; and (d) changes in the centromeric copy number, as detected by interphase ISH, might in some cases represent structural alterations, such as an isochromosome.

Aged↗
PubMed2001

Outcome of fetal urinary tract anomalies associated with multiple malformations and chromosomal abnormalities.

The purpose of this study was to identify prognostic factors and describe the outcome of prenatally detected renal anomalies associated with multiple malformations and chromosomal defects. Forty-one fetuses were included in the analysis. Prenatal ultrasound reports, neonatal records and autopsy information were retrospectively reviewed. Prognostic factors associated with fetal echography and clinical and laboratory findings on admission were studied. Data were analyzed by univariate analysis in which variables associated with adverse outcome were identified by the Chi-square test or Fisher exact test. The abnormalities associated with renal anomalies were divided into three groups: chromosomal defects (21%), previously described syndromes and conditions (24%), and new sporadic conditions (55%). Of 41 children admitted, 30 (76%) died during the perinatal period. The presence of oligohydramnios was significantly associated with an adverse outcome (OR=11, p=0.05). Male gender was a protective factor against death during the perinatal period (OR=0.11, p=0.01). In conclusion, prenatally detected renal anomalies associated with multiple malformations and chromosomal defects had a poor prognosis. The presence of oligohydramnios increased the risk of death, and male gender had a protective role against poor outcome.

Abnormalities, Multiple↗
PubMed2004

Three-dimensional ultrasonographic findings of the rare chromosomal abnormality 48, XXY/+18: a case report.

The 48, XXY/+18 is a very rare aneuploidy syndrome which combines the aberration in both autosome and sex chromosome. The authors report a case diagnosed prenatally by lymphocyte culture from fetal blood samples following cordocentesis, 2-dimensional (2DUS) and 3-dimensional ultrasonography (3DUS). At 33 1/7 weeks gestation in an ultrasound examination by indication large for date; single umbilical artery with absence of the left umbilical artery, polyhydramnios and fetal growth restriction were demonstrated. The fetus presented with microcephaly, prominent occiput, low-set ears, micrognathia, hypertelorism, small mouth, bilateral club hands with overlapping fingers, rocker-bottom feet. Karyotyping from the cordocentesis led to the diagnosis of 48, XXY/+18, which was confirmed by the chromosomal analysis of the umbilical cord blood after the baby was born. This is the first reported case of the very rare aneuploidy syndrome in the literature.

Abnormalities, Multiple↗
PubMed1998

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11.

Cytogenetic investigations and molecular analysis of the Y chromosome by the polymerase chain reaction amplification of sequence-tagged sites (STS-PCR) technique were performed in 126 patients affected by idiopathic oligo-azoospermia following accurate selection of cases. Seventeen patients evidenced an abnormal karyotype. Fourteen patients with a normal karyotype had microdeletions of the Y chromosome within interval 6. In azoospermic patients microdeletions were scattered along different subintervals, while in oligozoospermic patients they were clustered in subinterval 6E. The size of the deletion was not apparently related to the severity of the disease. These results suggest that cytogenetic analysis and the STS-PCR technique can detect a genetic cause of infertility in about one-quarter of patients with idiopathic oligo-azoospermia.

Adult↗
PubMed1987

Parental decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality.

In the period of a retrospective study (1970-1984 inclusive) forty cases of sex chromosome aneuploidy were identified at amniocentesis in Oxford, England and in Kuopio, Finland; 25 of these pregnancies were subsequently terminated. A decision to continue was made more often for XYY and XXX karyotypes, by older mothers and older fathers, by couples with more previous children, and by couples living in England. A decision to terminate was made more often for XXY and non-mosaic 45,X karyotypes, by younger mothers and younger fathers, by couples with few previous children, in all cases with abnormal ultrasound findings, when post-amniocentesis counselling was given by an obstetrician, and by couples living in Finland. Previous miscarriages, or terminations of pregnancy, previous problems with infertility, marital status, or the type of counselling given before amniocentesis, appeared not to influence a couples' decision. Religious and ethical ideas were not studied systematically at the time and cannot be reported on.

Abortion, Eugenic↗
PubMed1992

Recurring chromosome abnormalities in Hodgkin's disease.

Cytogenetic analysis was performed on lymph nodes or other tumor masses from 33 patients with Hodgkin's disease. Metaphase cells were obtained in 25 of the 33 cases. Analyzable abnormal clones were found in nine cases. Characteristic abnormalities included polyploidy and complex structural rearrangements nonrandomly involving certain chromosomal regions. Chromosomes most commonly gained were 2, 9, 11, 19, and 20, and those most often lost were 10, 13, 15, 16, 21, and Y. Translocation breakpoints clustered in bands 1p11-1p13, 1p36, 4q35, 14q11, and 15p11. In five patients, breakpoints were in bands to which T-cell receptor genes have been mapped. No specific, recurring translocation was identified. There was, however, recurring loss of chromosomal material from 1q, 4q, 6q, and 17p. Loss or deletions of chromosomes 4 and 6 were found in five and six patients, respectively. Deletions overlapped; the smallest overlapping segments included bands 4q25-4q27 and 6q21-6q23. The data suggest that loss of specific chromosomal regions may be important in the pathogenesis of Hodgkin's disease. With respect to tumor specificity, deletions of 4q are of particular interest because these have not been previously reported to occur nonrandomly in other human malignancies.

Adolescent↗