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PubMed1997

Diagnostic and prognostic significance of chromosome abnormalities in childhood acute lymphoblastic leukemia.

Current intensive chemotherapies cure about 70% of the children with ALL. On the other hand a significant number of the children are not cured despite intensive treatment. At the same time some highly curable patients are treated too intensively and suffer from unnecessary side effects of the chemo- and radiotherapy applied. In order to further improve the therapeutic results in this disease, we have to distinguish between the cases with a better and a worse prognosis. The initial karyotype (both numerical and structural chromosome abnormalities) proved to be one of the most reliable prognostic parameters, leading to the suggestion of developing genotype-specific therapies. Although the prognosis in patients with pseudodiploid karyotype is usually unfavorable, a significantly better prognosis can be observed in those with more than 50 chromosomes. Because the latter patients can achieve remission on a metabolite-based therapy, the toxic effects of more aggressive chemotherapy with anthracyclines and genotoxic agents can be avoided; thus, the reliable and accurate identification of patients with > 50 chromosomes is of particular importance. For this purpose three methods: chromosome analysis, DNA flow cytometry, and fluorescence in situ hybridization can be used. In 1993 it was decided to develop a comprehensive nationwide project in order to perform the initial genetic analysis of all ALL children diagnosed in the hematological/oncological centers of Hungary. Here the data obtained on 187 ALL patients diagnosed in the period from 1993 to 1995 are presented. In about 75% of patients (in 140 of 187) chromosome analysis was performed, in 78 cases (55.7%) successfully. The proportion of patients with abnormal karyotype was 36 of 78 (46.1%), and hyperdiploidy with more than 50 chromosomes was detected in 13 of 78 (16.6%) children. The lower ratio of hyperdiploid cases in our patients as compared to the data in the literature may be due to technical difficulties and the small number of patients studied, but it may reflect real geographic characteristics. Using flow cytometry, seven of 31 patients investigated (22.5%) proved to be hyperdiploid with a DNA index above 1.16. A higher ratio of hyperdiploid patients in this study calls attention to the significance of simultaneous application of the two methods. Taken together, 16 of 80 (20.0%) successfully studied patients proved to be hyperdiploid (> 50 chromosomes and/or DNA index above 1.16). The pattern of chromosome involvement in our study determined by chromosome analysis and/or FISH technique proved also to be different from the data of large international series. In addition to trisomies of chromosomes 4, 6, 10, 14, 17, 18, 21, and X, which are known to be the most frequently involved chromosomes, trisomies of chromosomes 3, 8, 11, and 13 were also observed with a high frequency. Comparison of survival curves of various cytogenetic subgroups showed a significant difference between diploid-pseudodiploid and diploid-hyperdiploid A (with 47-50 chromosomes) subgroups. No favorable prognosis of hyperdiploid patients (> 50 chromosomes) could be proved. Because of the small number of patients studied, prognostic differences of cytogenetic subgroups need further confirmation. The clinical and genetic differences observed, however, call attention to the necessity for further genetic studies of ALL patients in Hungary, because these differences may reflect real geographic characteristics and may be related to different environmental mutagen/carcinogen effects of the given geographic area. It is essential to determine whether or not these differences really exist and if they do to reveal the causes leading to these differences. In our view this is one of the routes by which the therapeutic results in childhood ALL can be further improved simultaneously with the avoidance of early and late toxicity of chemotherapy.

Child↗
PubMed2004

Duplication 15q14 --> pter: a rare chromosomal abnormality underlying bipolar affective disorder.

We have followed up a patient with 8q24.2 --> qter and 15q14 --> pter duplication due to a maternal reciprocal translocation, a condition related to Prader-Willi Syndrome. Apart from dysmorphic features, the patient suffered from recurring episodes of bipolar psychosis. Interestingly, PET scanning revealed revealed prominent bilateral hypometabolism in the frontal, temporal, and parietal lobes as well as in the cerebellum. Possible implications of this rare chromosomal abnormality with regards to psychiatric disorders are discussed, with emphasis on recent evidence suggesting chromosome 15q13-15 as a susceptibility locus for psychosis.

Adult↗
PubMed1990

Nonrandom chromosome abnormalities in testicular and ovarian germ cell tumor cell lines.

We report the karyotypic analysis of seven testicular and one ovarian germ cell tumor (GCT) cell lines, a number of which have previously been partially investigated. An i(12p) was found in each of the testicular GCT cell lines, while it was absent in the ovarian GCT cell line. Thus, our study extends to cell lines the observation from fresh tumor tissues that i(12p) is a highly nonrandom chromosomal abnormality of testicular GCT. Additional consistent nonrandom abnormalities in the testicular GCT cell lines included the following: del(1)(p22), del(1)(q21), i(1q), del(7)(q11.2), and del(12)(q14). The del(12)(q14) abnormality was identified in five of the cell lines investigated. This observation, together with previous detection of this marker chromosome in fresh tumor specimens by us and others, suggests that loss of genetic material on 12q may represent a primary change associated with malignant transformation of testicular germ cells. As reported in a previous study, a t(15;20)(p11;q11) translocation was identified in the ovarian GCT cell line. Interestingly, it also was seen in one testicular GCT cell line. In addition, a der(15)t(15;20)(p11;q11) marker chromosome was identified in two other testicular GCT cell lines. Thus, this reinvestigation of GCT cell lines has resolved the discrepancy regarding the occurrence of i(12p) in fresh tumors versus established cell lines and identified additional nonrandom abnormalities of potential importance to the development of GCTs.

Cell Line↗
PubMed2005

[Ultrasound screening for Down syndrome and other chromosomal abnormalities by fetal nuchal translucency measurement between 11-14 weeks of gestation].

AIM: To assess the feasibility of nuchal translucency [NT] measurement as a screening tool for Down syndrome [DS] and other chromosomal anomalies [ChA] between 11-14 weeks of gestation [w.g.]. MATERIALS AND METHODS: A longitudinal prospective follow up study was carried out at a tertiary referral center including 408 singleton pregnancies between 11+0 and 14+0 w.g. Three experienced sonographers performed transabdominal and/or transvaginal scans using high-resolution ultrasound equipment. The ultrasound examinations included assessment of fetal number and viability, NT measurement and fetal anatomy survey. Down syndrome [DS] risk was calculated using the specialized computer program provided by the Fetal Medicine Foundation [FMF], UK. In cases of estimated DS risk > or = 1:300 invasive prenatal diagnosis was offered--chorionic villus sampling [CVS] between 11-14 w.g. or amniocentesis [AC] after 15 w. g., as well as follow-up scans including fetal echocardiography. The samples were tested by cytogenetic analysis, DNA analysis and/or FISH. When chromosomal fetal abnormality was detected termination of pregnancy was an option. Pregnancy outcome was ascertained from hospital records, referring physicians or the patients themselves. RESULTS: 108 (26%) out of the 408 women were ?35 years and 300 (74%)--below that age. A total number of 9 fetal chromosomal anomalies [ChA] were found including 6 cases with DS, 2--with trisomy 18 [T18] and 1--with Turner syndrome. The overall sensitivity for DS was 66.7% for a false-positive rate [FPR] of 13.4%. The figures for all ChA were 77.7% and 12.8%, respectively. All three cases of ChA other than DS were in the screen-positive group. The overall sensitivity and FPR for ChA for patients > or = 35 years was 80% and 35%, while for patients < 35 years it was 75% and 5.1 %, respectively. Diagnostic invasive procedures were performed in 50 out of 58 screen-positive cases, including 7 of the cases with ChA. In all 7 cases with prenatal diagnosis of fetal ChA the parents chose to terminate the pregnancy. CONCLUSIONS: First trimester DS screening by NT measurement has high sensitivity and specificity. Screening for other chromosomal abnormalities missed by second trimester biochemical serum tests is also possible. Invasive prenatal diagnosis is performed at an early gestational age when termination of affected pregnancies by D&C is still an option. Other important advantages are the possibility of screening for ChA in multiple gestations, as well as early diagnosis of major fetal anomalies.

Amniocentesis↗
PubMed1975

Pentobarbital sodium and chromosome abnormalities in rabbit blastocysts.

Female rabbits were injected with pentobarbital sodium at 1/4 h or 6 h post coitum. A slight delay in oocyte maturation was evident in animals killed at 17 h pc, however, zygote development appeared normal by 24 h pc. At 6 days pc, a greater frequency of chromosomally abnormal blastocysts was found in animals injected with pentobarbital than in control rabbits.

Animals↗
PubMed2005

Telomere length and hTERT expression in patients with acute myeloid leukemia correlates with chromosomal abnormalities.

BACKGROUND AND OBJECTIVES: Acute myeloid leukemia (AML) is a malignant, genetically heterogenous disorder characterized by uncontrolled growth of immature myeloid cells. The aim of this study was to analyze whether telomere length and/or hTERT expression are correlated with clonal chromosomal aberrations in AML. DESIGN AND METHODS: Telomere length in mononuclear cells derived from 137 previously untreated patients with >or= 80% blasts was analyzed by flow fluorescent in situ hybridization. Results were expressed in telomere fluorescence Units (1 TFU=1 kb). The expression of hTERT, including its different splice variants was studied by reverse transcription-polymerase chain reaction. RESULTS: Age-adjusted telomere length in AML patients was significantly reduced as compared to in matched controls, consisting of peripheral blood granulocytes from healthy individuals (0-90 years) (median: -2.5 TFU; p<0.001). Patients with an aberrant karyotype had significantly shorter telomeres than patients with a normal karyotype (median -3.0 vs. -2.3 TFU; p=0.03). The shortest telomeres were found in patients with multiple aberrations (median -3.7 TFU; p=0.03). hTERT expression was found to be correlated with chromosomal abnormalities as well as with the detection of functional hTERT splicing variants. INTERPRETATION AND CONCLUSIONS: These findings suggest an important role of intense telomere loss in the development of genetic instability during the pathogenesis of AML. It is assumed that critical telomere shortening in AML blasts could lead to telomerase activation and therefore prevent blasts from replicative senescence, one possible mechanism for clonal selection and disease progression. Therefore, telomere length might serve as a prognostic marker for AML patients. These findings would have to be confirmed in large, prospective studies.

Acute Disease↗
PubMed2003

Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience.

OBJECTIVE: To evaluate the performance of a one-stop multidisciplinary clinic of screening for fetal chromosomal anomalies in the first trimester of pregnancy by a combination of maternal serum biochemistry and ultrasonography. DESIGN: Retrospective review of screening performance. SETTING: District General Hospital maternity unit. POPULATION: All women booked for routine antenatal care at Harold Wood Hospital between 1 June 1998 and 31 May 2001. The population included 12,339 women with singleton pregnancies presenting at 10-14 weeks of gestation. METHODS: Women were offered screening using a combination of maternal serum free beta-hCG and pregnancy associated plasma protein-A (PAPP-A) and fetal nuchal translucency thickness. Those with an estimated risk of >/=1 in 300 of carrying a fetus with trisomy 21 or trisomy 18 or trisomy 13 were offered the option of an invasive diagnostic test. Follow up of the outcome of all pregnancies was carried out. MAIN OUTCOME MEASURES: Uptake of screening and invasive testing, detection rate for fetal chromosomal abnormalities and false positive rate. RESULTS: The uptake of first trimester screening was 97.5% and the uptake of invasive testing in the increased risk group was 77%. The rate of detection of trisomy 21 was 92% (23 of 25), of trisomy 13 or 18 was 100% (all 15) and of all aneuploidies was 96% (49 of 51). The false positive rate was 5.2%. CONCLUSIONS: First trimester screening for trisomy 21 and other aneuploidies can be delivered in an efficient manner in a one-stop multidisciplinary clinic. The detection rates are far better than can be achieved by second trimester serum screening.

Adult↗
PubMed1986

Induction of tumorigenesis and chromosomal abnormalities in human amniocytes infected with simian virus 40 and Kirsten sarcoma virus.

Cell cultures of epithelial-like human amniocytes were infected with simian virus 40 (SV40) and Kirsten sarcoma virus (KSV) in various sequential orders, and tested for agar growth, chromosome abnormalities, and tumorigenesis in the nude mouse assay. We observed that regardless of the order in which the viruses were introduced, the doubly infected cells always exhibited the typical SV40 premalignantly transformed phenotype before changing to the malignant phenotype. All doubly transformed cells from different cell donors produced tumors in adult and suckling nude athymic mice, classified as poorly differentiated sarcomas. Infection with SV40 alone conferred extended life span and accelerated growth without the malignant capability of tumor production. Kirsten sarcoma virus alone produced only focal cell alterations with no change in cell longevity or tumorigenesis. Chromosome studies of the premalignant and malignant cells from one cell donor did not reveal any significant clonal development for marker chromosomes in either cell line. Chromosome 12, which carries the homologous cellular oncogene to KSV, had no increase in aberrations in the malignant cells. Chromosome 8 was most often involved in aberrations, and the most frequent aberration for both series was dicentric chromosomes due to telomere fusion. For other translocations the breakpoints were almost exclusively in the centromere regions. The vulnerability of telomere and centromere regions to the free virus present in these precrisis cells is discussed, and similarities in regard to types of aberrations in transfection experiments are noted.

Amnion↗
PubMed1983

Chromosome Abnormalities in infants with prune belly anomaly: association with trisomy 18.

Two infants are described with "prune belly anomaly" (PBA) and concomitant trisomy 18. Severe abdominal distention was detected prenatally in one by ultrasonographic study, and in the second child at birth. Other chromosome abnormalities previously associated with PBA also are reviewed. The prune belly anomaly constitutes a malformation sequence that is causally nonspecific and which may occur in diverse aneuploidy syndromes. Aneuploidy is important to detect in prenatally diagnosed cases in which intrauterine fetal treatment is being considered.

Chromosomes, Human, 16-18↗
PubMed1993

Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean?

Patients with Fanconi's anaemia (FA) have aplastic anaemia, leukaemia, myelodysplasia and tumours. Since leukaemia has a very poor prognosis, it is desirable to identify high-risk patients. To determine the significance of clonal marrow chromosomal abnormalities we began a prospective study in 17 patients: five were normal, eight aplastic, and four myelodysplastic. Three of 11 with adequate cytogenetics had transient abnormal clones. None had leukaemia at 3-24 months. Changing cytogenetic patterns may not be related to leukaemic evolution in patients with a DNA repair defect.

Chromosome Aberrations↗
PubMed2000

The molecular genetics of recurring chromosome abnormalities in acute myeloid leukemia.

Chromosome translocations are closely associated with a particular morphologic or phenotypic subtype of acute myeloid leukemia (AML). Cloning the genes at the breakpoints of these rearrangements has had a major impact on our understanding of the molecular biology of AML. Thus, cytogenetic or direct molecular genetic methods have become an essential part of the routine diagnostic evaluation and follow-up of AML patients. This review describes the MLL gene on 11q23 including three types of t(10;11), the TLS/FUS gene on 21q22, the AML1 gene on 21q22, and the NUP98 gene on 11p15. The target gene(s) of MLL is unknown at present, but it appears to be involved in maintaining function of some of the homeobox genes. The transcriptional coactivators, CBP and p300, were found to be involved in leukemogenesis through translocations. Characterization of the functions of genes involved in these translocations has enriched our understanding of their roles in leukemogenesis, and provided some suggestions for new therapy.

Acute Disease↗
PubMedDate not supplied

Congenital polyvalvular cardiac disease without chromosomal abnormalities.

Congenital polyvalvular cardiac disease has been reported in association with trisomies 18, 13, and 15. Ninety-three percent of trisomy 18 patients have polyvalvular disease, and 34% have all four valves involved. Four cases of polyvalvular disease without chromosomal abnormalities were studied and compared to polyvalvular disease with trisomy. In these four cases, all four valves were markedly abnormal with nodularity and reductant tissue; one aortic and two pulmonary valves were bicuspid; and one aortic, two tricuspid, and three mitral valves were unicuspid. The chordae tendineae were generally abbreviated and papillary muscles were hypoplastic. Microscopically, the valves had spongiosis, vacuolar degeneration, and a decrease in elastic fibers. Multiple other cardiac anomalies were present in each case. Three of the four cases also had significant extracardiac anomalies, which were lethal in two cases. The fourth case with no other anomalies had a history of maternal tobacco, alcohol, and cocaine abuse, with the latter being detected in fetal urine after birth. There does not appear to be a significant difference between polyvalvular disease with and without trisomy. Polyvalvular disease is usually not an isolated disorder but is associated with other intra- and extracardiac anomalies.

Female↗
PubMed2003

Chromosomal abnormalities and DNA image cytometry of haematological neoplasms in fine needle aspirates of lymph nodes.

The current diagnostics of haematological neoplasms along with morphological analysis, immunophenotyping and molecular analysis inevitably includes cytogenetic analysis. In this work the possibility of cytomorphological subclassification of haematological neoplasms from lymph node fine needle aspirates was examined without depending upon the referential histological diagnosis and cytogenetic analysis. In addition, the feasibility of cytogenetic analysis of the material obtained by lymph node fine needle aspiration (FNA) was examined. By analysing the findings of cytogenetic analysis and DNA image cytometry, it was decided to examine the possibility of comparing the findings and supplementing diagnostic possibilities of these methods. In 15 cases cytological diagnoses and cytogenetic analysis of haematological neoplasms were performed on the material obtained by lymph node FNA. In 12 of 15 cases histological diagnosis was made separately. A good cytohistological correlation was available in 9 of 12 cases (75%). Cytomorphological diagnoses in 10 of 15 cases (76%) were confirmed by the finding of a specific chromosomal translocation. In two cases cytological diagnosis did not correlate with the histological diagnosis and was confirmed only with specific chromosomal translocations. The lymphocytes obtained by lymph node FNA were adequate material for cytogenetic analysis - in 15 of 18 (83%) cases mitoses in cell cultures were obtained. In 13 of 15 (87%) cases clonal chromosomal abnormalities were detected, whereas in 2 of 15 (13%) cases a normal karyotype was found. DNA image cytometry was performed on nine samples, whereas in six samples the material was not sufficient. Although a small number of samples was analysed in the cases with identical cytomorphological diagnoses, the analysed histograms regarding the DNA index values showed heterogeneity. In conclusion, a cell culture sampled by FNA of lymph nodes is an adequate method for the chromosomal analysis. The specific cytogenetic abnormality associated with cytological diagnosis provides an opportunity to make a definitive diagnosis and provides a powerful approach when reference diagnosis on biopsy material cannot be obtained.

Biopsy, Fine-Needle↗
PubMed2005

Chromosome abnormalities with prognostic impact in B-cell chronic lymphocytic leukemia.

The detailed analysis of the biologic features led to a rapid increase in clinically relevant information in CLL. The recognition of the prognostic role of IgVH hypermutation status and related phenotypic changes (CD38, ZAP-70 expression) as well as of chromosome abnormalities defined by cytogenetic analysis enabled a refined classification of the disease. Improvements in karyotyping and the introduction of fluorescence in situ hybridization (FISH) in routine hematological diagnostics raised the detection rate of chromosomal aberrations to approx. 60-80% in CLL. Among them, deletions of 17p and 11q have been associated with unfavorable prognosis. The deletion of the p53 locus (17p13) was described as the strongest independent predictor for aggressive behavior, resistance to chemotherapy and early death. On the contrary, an isolated deletion at 13q14 or a normal karyotype was related with a long survival. Classical and molecular cytogenetic analysis became an important tool for individual risk estimation. Unlike any other approaches, cytogenetic monitoring reflects the genetic heterogeneity and clonal growth dynamics during the course of the disease.

ADP-ribosyl Cyclase 1↗
PubMed1990

Perinatal characteristics of the phenotypically and chromosomally abnormal live-born.

Perinatal characteristics of 105 singleton live infants born during the last 5 years and suspected phenotypically of having karyotypic abnormalities were studied; 33 abnormal karyotypes were found. These pregnancies were compared with all pregnancies delivering at our hospital during the same time period. A retrospective analysis using our perinatal data base examined maternal age, gravidity, parity, race, mode of delivery, birth weight, gestational age at delivery, Apgar scores, and size for gestational age. Within the phenotypically abnormal group, karyotypically normal and abnormal infants showed no significant differences in primary cesarean rates, low Apgar scores, mean birth weight, or appropriateness of size for gestational age. Karyotypically abnormal infants were smaller than the general population (P less than .001) and had lower Apgar scores (P less than .05) but were just as likely to be full-term (66.7 versus 70.3%). These chromosomally abnormal pregnancies had a higher primary cesarean rate than the general population (30.3 versus 15.4%; P less than .001). Black infants undergoing genetic studies had a 37% rate of karyotypic abnormalities, which was significantly higher than the 12.5% rate in the white infants tested (P less than .05). The term black infant with phenotypic abnormalities suggestive of karyotypic abnormalities may be less likely to be recognized and appropriately tested. Increased awareness of phenotypic abnormalities with subsequent genetic testing seems warranted.

Cesarean Section↗
PubMed2001

Ductus venosus blood flow in chromosomally abnormal fetuses at 11 to 14 weeks of gestation.

This article reviews the role of ductus venosus (DV) Doppler evaluation in the screening for aneuploidies at 11 to 14 weeks of gestation. Ductus venosus flow velocity waveforms were obtained immediately before fetal karyotyping in 515 consecutive singleton pregnancies at 11 to 14 weeks. We found 446 normal and 69 abnormal karyotypes. Abnormal flow in the DV was the only significant difference between both groups. Sensitivity of the test was 80% and false positive rate < 1%. Normal karyotype but abnormal flow in the DV was recorded in 17 of 446 cases, 7 presenting a cardiac defect. Increased nuchal translucency seems to be related, in most cases, to early cardiac dysfunction. Chromosomal abnormalities and/or cardiac defects were often found in cases with increased nuchal translucency and abnormal flow in the DV. We suggest that the evaluation of ductal flow between 11 to 14 weeks of gestation should be adopted as a second level screening test to reduce invasive test rate derived from the exclusive measurement of nuchal translucency.

Adolescent↗
PubMed1993

Clinical implications of chromosomal abnormalities in 401 patients with myelodysplastic syndromes: a multicentric study in Japan.

It is well known that cytogenetic analysis in patients with myelodysplastic syndrome (MDS) provides information useful in determining their prognosis. Based on the chromosomal results obtained from 401 MDS patients by a multicentric study in Japan, we studied correlations between chromosomal findings and prognosis or leukemic transformation in MDS patients. Patients with complex aberrations (cytogenetic abnormalities at more than three chromosomes), of any subtype, had a poor prognosis; for example, > 60% of patients with refractory anemia (RA) showing complex aberrations died within one year, but only 11% of them developed leukemia. In patients with RA with ringed sideroblasts (RARS), > 70% of those with complex aberrations evolved into the leukemic phase and survived for less than one year, suggesting a biologic heterogeneity in RARS patients. By contrast, about 5% of patients with RA or RARS exhibiting chromosomal findings other than -7/7q-, +8, two aberrations, and complex aberrations, developed leukemia and had a favorable prognosis. Therefore, the presence of chromosome abnormalities alone in patients with RA or RARS is not a factor in predicting leukemic transformation or poor prognosis. In patients with refractory anemia with an excess of blasts (RAEB), the presence of chromosome aberrations at MDS diagnosis affected the occurrence of leukemic transformation (24% versus 43%), however, no particular difference was noted in patients with RAEB in transformation with regard to whether they had chromosome changes or not, and about 60% of them evolved into leukemia. The poor prognosis related to complex aberrations was consistently noted in all MDS subtypes or age-matched groups, indicating that this cytogenetic anomaly is an independent risk factor for a poor prognosis in MDS patients. The duration between MDS diagnosis and development of the leukemic phase and that between the latter and death were significantly shorter in patients with complex aberrations than those without this change. Although the clinical significance of certain chromosomal abnormalities differs among subtypes of MDS, a new scoring system for predicting prognosis by cytogenetic changes, in combination with hematologic parameters, was proposed.

Adolescent↗
PubMed2000

Detection of chromosomal abnormalities by fluorescent in-situ hybridization in immotile viable spermatozoa determined by hypo-osmotic sperm swelling test.

If randomly selected immotile spermatozoa are used for intracytoplasmic sperm injection (ICSI), pregnancy rates are significantly decreased. The hypo-osmotic swelling test (HOST) is the only method available to detect the viable, but immotile spermatozoa for ICSI. However, evidence is still lacking for the chromosomal abnormalities for the normal-looking, but immotile spermatozoa positive for HOST. Sperm samples from 20 infertile men with normal chromosomal constitution were obtained. After Percoll separation, morphologically normal but immotile spermatozoa were transported individually into HOST solution for 1 min using micropipettes. Cells that showed tail curling with swelling in HOST were then transferred back into human tubal fluid solution to allow reversal of swelling. These sperm cells were fixed and processed for the multi-colour fluorescence in-situ hybridization (FISH) for chromosomes X, Y and 18. The same FISH procedure was applied for the motile spermatozoa from the same cohort, which formed the control group. The average aneuploidy rates were 1.70 and 1.54% in 1000 HOST positive immotile and motile spermatozoa respectively detected by FISH for each patient. Our results indicate that morphologically normal, immotile but viable spermatozoa have an aneuploidy rate similar to that of normal motile spermatozoa.

Aneuploidy↗