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PubMed2005

Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production.

OBJECTIVE: To ascertain whether embryos classified by preimplantation genetic diagnosis (PGD) for infertility as abnormal and then plated to obtain stem cells would self-correct partially or totally in culture, producing disomic stem cells. DESIGN: Prospective study to determine the chromosome status of embryos on day 3 and 6, as well as cultured cells derived from inner cell masses from the same embryos when cultured up to day 12. SETTING: Research laboratory. PATIENT(S): Patients undergoing PGD of aneuploidy. INTERVENTION(S): Of 142 embryos classified by PGD for aneuploidy as abnormal, 50 were cultured to the blastocyst stage. At that stage a fraction of the embryos underwent trophectoderm biopsy to reconfirm the PGD diagnosis. After further co-culture with feeders up to day 12, 34 embryos attached to the feeder cells. Of those, 24 were analyzed by fluorescence in situ hybridization (FISH) and the rest for the expression of Oct-4, SSEA-3, SSEA-4, TRA1-60, and TRA1-80. MAIN OUTCOME MEASURE(S): Disomic cells obtained from trisomic embryos. RESULT(S): Analysis by FISH of day-12 cultures showed that 7 were totally normal, 6 were mostly abnormal, and 11 had experienced some chromosome normalization, having between 21% and 88% normal cells. Day-12 culture was positive for Oct-4 expression by reverse transcriptase polymerase chain reaction analysis and for SSEA-3, SSEA-4, TRA1-60, and TRA1-80 by immunocytochemistry. CONCLUSION(S): Chromosome self-normalization occurs in a significant proportion of chromosomally abnormal embryos, possibly because of the loss of a chromosome in trisomic cells after blastocyst stage. Thus chromosomally abnormal embryos are a potential source of disomic stem cells. Not all chromosomally abnormal embryos self-corrected. Abnormal stem cells that might be derived could be used as models to study the effect of chromosomal abnormalities on human development.

Chromosome Aberrations↗
PubMed1996

Further evidence for the clonal nature of the idiopathic hypereosinophilic syndrome: complete haematological and cytogenetic remission induced by interferon-alpha in a case with a unique chromosomal abnormality.

A 49-year-old man with the idiopathic hypereosinophilic syndrome (HES) and a unique chromosomal abnormality 46,XY,t(5;9)(q32;q33) is reported. Complete cytogenetic remission was induced by interferon alpha-2b (IFN-alpha). The beneficial action of IFN-alpha in different stem-cell disorders such as CML, HES, multiple myeloma and solid tumours such as hypernephroma or malignant melanoma suggests a common regulatory effect possibly by immunomodulation or other (immune-mediated) mechanisms, but the exact pathophysiological mechanisms remain hypothetic and unresolved. Since it has been known for some years that the genes encoding for GM-CSF, IL-3 and IL-5 reside on the long arm of chromosome 5, it could be possible that the chromosomal translocation in our patient resulted in excess production of these cytokines, hence causing the hypereosinophilia. This case report and the results obtained from the literature review support the growing body of evidence that IFN-alpha has a major place in the long-term treatment of HES, especially in those cases resistant to conventional treatment, with cytogenetic abnormalities, or presenting as a myeloproliferative variant of HES. In those cases IFN-alpha results in lower morbidity, lower mortality and long-term survival.

Chromosomes, Human, Pair 5↗
PubMed2002

Tetrasomy 21 as a sole chromosome abnormality in acute myeloid leukemia. fluorescence in situ hybridization and spectral karyotyping analyses.

We report a case of acute myeloid leukemia with tetrasomy 21 as the sole chromosome abnormality in a constitutionally normal patient. Tetrasomy 21 was observed at presentation, disappeared in remission, but reappeared in recurrence of the disease. Fluorescence in situ hybridization analysis using a probe specific for the AML1 gene showed four distinct signals in 82.4% and three signals in 10.8% of interphase nuclei, although conventional G-banding revealed tetrasomy 21 alone in mosaicism with normal karyotype. Spectral karyotyping further confirmed the presence of extra copies of chromosome 21. Tetrasomy 21 as the only anomaly is relatively rare in patients with hematologic disorders other than Down syndrome, and to our knowledge has been reported previously in only seven cases. In a review of the literature, tetrasomy 21 as the only anomaly may be associated with myeloid disorders, although simultaneous numeric abnormalities other than chromosome 21 have been reported in acute lymphoblastic leukemia with hyperdiploid karyotype.

Adult↗
PubMed1986

Sirenoid monopodia with defects of right abdominal wall and lower limb associated with chromosome abnormality.

We have experienced a case of sirenoid monopodia with extreme deformity, which was studied pathoanatomically and genetically. The pathoanatomical studies revealed complicated deformities such as absence of the right abdominal wall, sacrum, right side of the os coxae and lower extremity, etc., and a chromosome study revealed 46XX, t (1 p-, Xq+), -8, +M. Various authors have discussed the genetic factors of anomaly of vascular development and concluded that all cases except for a few familial types would appear to be sporadic. In the present paper we report on an extreme type of sirenoid monopodia with right lower limb defect associated with chromosome abnormality. It is supposed that impoverished blood supply to the right lower portion of the body may have been the cause of this case, but the involvement of genetic factors is still unknown.

Abdominal Muscles↗
PubMed1987

Chromosomal abnormalities in indolent lymphoma.

Cytogenetic studies were performed on lymph node biopsies from 60 patients with indolent (low grade) non-Hodgkin's lymphoma. Thirty-two of the 39 successfully cultured biopsies had abnormal clones. The 32 abnormal clones represented the following histologies: seven small lymphocytic lymphoma (SL), eight follicular small cleaved cell lymphoma (FSC), 14 follicular mixed, small cleaved, and large cell lymphoma (FM), and three composite lymphomas. One of the composite lymphomas had FSC/DSC (diffuse small cleaved cell) and the other two FM/DM (diffuse mixed, small cleaved and large cell). Twenty-seven of the 32 biopsies were immunologically typed, and all were B cell. The clones all exhibited more structural than numerical abnormalities, and there was no difference in the modal chromosome number of the abnormal clones found in each histology. Biopsies with no normal cells were more frequently found in the SL histology (71%) than in the two follicular lymphoma groups (54%-55%). A translocation of the 14q32 segment was the most common abnormality found in all three histologies. In the follicular lymphomas a t(14;18)(q32;q21) was seen in 52% (13 of 25) of these patients, this translocation was not observed in the SL patients. Overall 84% (21 of 25) of the follicular lymphoma patients had abnormalities of 14q32 and/or 18q21. Other specific abnormalities included anomalies of chromosome #3 in FM, an abnormal 10q in FSC and FM lymphoma, and a high incidence of +18 and chromosome #1 abnormalities in patients with t(14;18). The presence of specific chromosome abnormalities in the indolent lymphoma patients suggests a relationship between certain karyotypic features and histology.

Adult↗
PubMed1996

Intracytoplasmic sperm injection in infertile patients with structural chromosome abnormalities.

In the present study we investigated the results of cytogenetic analysis in male and female patients included in an intracytoplasmic sperm injection (ICSI) programme for severe male infertility as well as in conceptuses resulting from these ICSI treatments. In the 261 couples treated, 11 male (4.2%) and three female (1.2%) abnormal karyotypes were found, all consisting of structural chromosome anomalies. Chromosomal translocation exhibited the highest frequency (eight males and two females), and there were also three cases of chromosomal inversion (two males and one female) and one male with one additional marker chromosome. There was no difference in fertilization rates among couples with abnormal (n = 14) and normal (n = 147) cytogenetic results, and the rates of clinical pregnancy per ICSI attempt were 25.0% (5/20) and 20.6% (78/ 378) respectively. In pregnancies obtained in couples with normal karyotypes, all of the 108 fetuses were free of chromosomal abnormalities. Among the eight fetuses from couples with chromosome structural anomalies, three out of five and two out of three inherited from the cytogenetic defects found in their father or mother respectively. In this series of 83ICSI pregnancies there were no chromosomal abnormalities other than those inherited from the parents. These findings suggest that normal pregnancy rates can be obtained by ICSI in cases of chromosomal translocation in couples with severe male infertility. However, until further evaluations of available data can be performed, cytogenetic analysis must be conducted prior to ICSI in men with low sperm counts, and genetic counselling must include prenatal diagnosis for all growing conceptuses.

Chromosome Aberrations↗
PubMed1996

Effect of zinc deficiency on chromosomal abnormalities in mice.

In the present study we investigated the effect of zinc-deficiency on chromosomal abnormalities and mitotic index, and the interaction of zinc-deficiency and methotrexate. Therefore, two zinc-deficient and two zinc-adequate diet received mouse groups were constituted. Methotrexate was injected to one of zinc-deficient and one of zinc-adequate diet groups. There were no structural and numerical abnormalities in all groups. However, mitotic index was significantly lower than other groups in zinc-deficient and methotrexate administered mice.

Animals↗
PubMed1988

Infantile acute leukemia with 11q23 chromosome abnormality and lineage infidelity.

An infant case of acute leukemia (AL) showed lineage infidelity and a chromosome rearrangement involving 11q23. This case was morphologically diagnosed as ALL-L2 according to the FAB classification. However, the blast cells were highly positive for monoclonal antimyeloid antigens (Mol and TG-8) and lymphoid markers (B1, J5 and TdT). These immunologic findings indicated that the blast cells had characteristics of lymphoid B-cell and myeloid lines. In the literature, so-called "11q23 chromosome abnormalities," commonly observed in acute nonlymphoblastic leukemia (ANLL) and in a subtype of acute lymphoblastic leukemia (ALL) with t(4;11) were observed in both lymphoid and myeloid acute leukemias, with some of them recently reported to have lineage infidelity. These unique characteristics may indicate the possibility that the latter is a variation of the former, and support the hypothesis that the chromosomal rearrangement at 11q23 occurs at a multipotent stem-cell level.

Acute Disease↗
PubMed1992

Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities.

During an 8-year period (1983-1991), blood karyotyping was performed in 235 fetuses with abdominal wall or gastro-intestinal tract defects. The overall incidence of chromosomal abnormalities was 29% (trisomy 21, n = 12; trisomy 18, n = 44; trisomy 13, n = 7; deletion of the short arm of chromosome 5, n = 1; unbalanced translocation involving chromosomes 4 and 15, n = 1; triploidy, n = 1; Klinefelter's syndrome, n = 1; and Beckwith-Wiedemann syndrome with mosaic duplication 11p15, n = 1). The karyotype was abnormal in 42 (36%) of the 116 fetuses with exomphalos, in none of the 26 with gastroschisis, in 10 (43%) of the 23 with duodenal atresia, in 18 (75%) of the 24 with lack of visible stomach, in 1 (4%) of the 24 with dilated bowel and in 2 (7%) of the 27 with echogenic hepatic nodules or abdominal cysts. Abnormal karyotypes were more commonly encountered when there was ultrasonographic evidence of multiple malformations (43%) compared to isolated defects (2%). Survival in fetuses with exomphalos (33%), absent stomach (4%), and large bowel obstruction (13%) was poor, whereas in those with gastroschisis (73%) or abdominal cysts (88%) survival was high; in small bowel obstruction and in duodenal atresia, survival was 65 and 57%, respectively.

Abdominal Muscles↗
PubMed2000

Multiple pelvoureteric diverticulosis in a 1-month-old infant with a del(10p) chromosomal abnormality presenting with UTI and VUR.

A 1-month-old girl with a del(10p) chromosomal abnormality presented with a febrile urinary tract infection. Radiographic voiding cystourethrography demonstrated bilateral vesicoureteral reflux and multiple pelvoureteric diverticula ranging in size from 2 to 5 mm. Pandiverticulosis of the urinary tract in a child of this age has not been previously reported.

Chromosome Aberrations↗
PubMed1989

Chromosomal abnormalities in amniotic fluid cell cultures: a comparison of apparent pseudomosaicism in Chang and RPMI-1640 media.

The finding of chromosome mosaicism is one of the most difficult problems in fetal chromosome analysis. Whether the finding indicates true mosaicism or pseudomosaicism must be investigated. Studies detailing the incidence of true mosaicism and pseudomosaicism have been reported (Hsu & Perlis 1984, Bui et al. 1984, Worton & Stern 1984) but do not correlate pseudomosaicism with any particular type of culture media. Benn & Hsu (1985) compared cell growth and chromosome abnormalities in amniotic fluid cell cultures grown in Chang medium and RPMI-1640 medium and found no statistically significant difference in the rate of abnormalities in the two media. We have previously shown that Chang medium exhibited more abnormalities which were not verified in second and third cultures (Masia et al. 1986). In the current study we examined 212 cases grown in both Chang and RPMI-1640 media, and compared apparent single and multiple cell pseudomosaic abnormalities to medium type. The number of observed abnormalities was 22, occurring in 19 of the cases studied. Apparent pseudomosaic chromosome anomalies were observed in 18 Chang cultures and in 4 RPMI-1640 cultures. Statistical analysis found significant correlation between medium type and the degree of observed pseudomosaic cells. We conclude that the rate at which pseudomosaic cells are observed is partly a function of medium type, and in our laboratory Chang medium caused apparent pseudomosaicism at a greater level than RPMI-1640 medium.

Amniotic Fluid↗
PubMed2001

First-trimester screening for chromosomal abnormalities by fetal nuchal translucency in a Brazilian population.

OBJECTIVES: To examine the detection rate of chromosomal abnormalities using nuchal translucency (NT) thickness in a Brazilian population. METHODS: This was a prospective study of 2996 singleton pregnancies with a live fetus at 10-14 weeks of gestation attending for routine antenatal care in a teaching hospital in Brazil. Fetal crown-rump length (CRL) and NT thickness were measured and the risks for trisomy 21 were calculated by a combination of maternal age and fetal NT with the use of software provided by The Fetal Medicine Foundation. Sensitivity and positive predictive values for different risk cut-offs were calculated. RESULTS: Chromosomal defects were diagnosed in 22 cases, including 10 cases of trisomy 21. The estimated risk based on maternal age and fetal NT was 1 in 300 or greater in 222 (7.4%) cases and these included nine of 10 (90.0%) pregnancies with trisomy 21 and nine of 12 (75.0%) pregnancies with other chromosomal defects. The NT was above the 95th centile in 5.8% of cases and this group included 70% of the trisomy 21 cases. CONCLUSION: A combination of maternal age and fetal NT provides an effective method of screening for chromosomal defects. The performance of the test in a Brazilian population is similar to that in Britain.

Brazil↗
PubMed1990

Chromosome abnormalities and fragile sites in human melanoma.

Chromosome analysis in short-term lines of three primary and seven metastatic malignant melanomas showed aneuploid karyotypes with recurrent abnormalities of chromosomes 1 (five cell lines), 6 (nine cell lines), and 7 (six cell lines). The breakpoints observed on the rearranged chromosomes frequently coincided with loci of known oncogenes and fragile sites. Two of the cell lines were analyzed after xenograft into nude mice and showed the presence of the same chromosomal changes observed in the parental cell lines, indicating the stability of the karyotype. A tendency toward an increased chromosomal fragility in peripheral blood lymphocytes was observed in five melanoma patients compared to ten normal individuals. However, there was no increased level of expression of specific fragile sites corresponding to the breakpoints observed in melanoma cells.

Chromosome Aberrations↗
PubMed2006

del(6)(p23) in two cases of de novo AML--a new recurrent primary chromosome abnormality.

OBJECTIVE: Previously, deletion 6p23 was generally reported in therapy-related secondary acute myeloid leukemia (AML) as part of complex karyotypes. In this report, we present two young adult patients with de novo AML-M2 and a terminal deletion 6p23 as a sole primary abnormality, confirmed by chromosome 6 specific subtelomeric probes. METHODS: Two female patients 35 and 20 yr of age presented with anemia, but no bleeding, infections, lymphadenopathy or organomegaly. Morphological, immunophenotyping, chromosome and fluorescent in situ hybridization (FISH) analysis was performed on bone marrow aspirate cells. RESULTS: A diagnosis of AML-M2 was confirmed in both patients by morphological and immunophenotyping studies. Chromosome analysis in case no. 1 showed deletion 6p23 in 20% of metaphases whereas in case no. 2 the deletion 6p23 was present in 100% metaphases. FISH analysis confirmed the deletion as terminal in both cases. The DEK oncogene at 6p23 in both cases was found not to be deleted. CONCLUSION: To our knowledge, deletion 6p23 as a sole primary abnormality was reported in only one case. The common morphological, immunophenotypic, and cytogenetic features in our two patients strongly support a separate new entity of de novo AML with deletion 6p23.

Adult↗
PubMed2005

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

In total, 200 families were reviewed with directly transmitted, cytogenetically visible unbalanced chromosome abnormalities (UBCAs) or euchromatic variants (EVs). Both the 130 UBCA and 70 EV families were divided into three groups depending on the presence or absence of an abnormal phenotype in parents and offspring. No detectable phenotypic effect was evident in 23/130 (18%) UBCA families ascertained mostly through prenatal diagnosis (group 1). In 30/130 (23%) families, the affected proband had the same UBCA as other phenotypically normal family members (group 2). In the remaining 77/130 (59%) families, UBCAs had consistently mild consequences (group 3). In the 70 families with established EVs of 8p23.1, 9p12, 9q12, 15q11.2, and 16p11.2, no phenotypic effect was apparent in 38/70 (54%). The same EV was found in affected probands and phenotypically normal family members in 30/70 families (43%) (group 2), and an EV co-segregated with mild phenotypic anomalies in only 2/70 (3%) families (group 3). Recent evidence indicates that EVs involve copy number variation of common paralogous gene and pseudogene sequences that are polymorphic in the normal population and only become visible at the cytogenetic level when copy number is high. The average size of the deletions and duplications in all three groups of UBCAs was close to 10 Mb, and these UBCAs and EVs form the "Chromosome Anomaly Collection" at http://www.ngrl.org.uk/Wessex/collection. The continuum of severity associated with UBCAs and the variability of the genome at the sub-cytogenetic level make further close collaboration between medical and laboratory staff essential to distinguish clinically silent variation from pathogenic rearrangement.

Chromosome Aberrations↗
PubMed1994

Chromosomal abnormalities in the lymphocytes of a male patient with breast cancer.

Blood lymphocyte cultures of a male with carcinoma of the breast revealed both numerical (hypodiploidy and hyperdiploidy) and structural abnormalities. Only few cases of male breast cancer have been cytogenetically characterized. Earlier studies revealed normal karyotypes in peripheral blood cultures of male breast cancer patients and abnormalities only in the tumor tissue. The present report describes 16.6% abnormal metaphases detected in the peripheral blood lymphocytes. Numerical abnormalities were loss of chromosome 9 and 19 and gain of chromosome 7. Structural abnormalities were a cell with marker, del(11)(q22-23) and dic(7;19)(q36;p13). These abnormalities are compared with male and female tumor karyotypes reported in the literature.

Breast Neoplasms, Male↗