Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Monosomy”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources
PubMed2006

Cryptic mosaicism for monosomy 20 identified in renal tract cells.

We report a post-natal case of mosaic aneuploidy for chromosome 20 in a 4 months old male baby with an abnormal phenotype including dysmorphic features (asymmetric facial growth), ventricular septal defect, hypotonia and bilateral vesicoureteric reflux. Conventional cytogenetics on peripheral blood showed 1 cell of 200 with 47,XY,+20. Further investigations using fluorescent in situ hybridization (FISH) on a urine sample, with a centromere probe for chromosome 20, revealed 39 of 50 cells giving one signal indicative of monosomy 20. FISH analysis of a buccal smear was consistent with disomy 20 as was conventional cytogenetics on skin fibroblasts. This is the fourth reported case of mosaic monosomy 20, the second case where monosomy 20 is present with a trisomy 20 cell and the first case with each aneuploidy found in two separate tissues. The identification of mosaicism is a difficult task since the abnormal cells can be present only in certain tissues and may disappear with selection as the fetus develops, thus leading to single-cell abnormalities that may get dismissed (pseudomosaicism). The use of FISH in this case was crucial in identifying the cryptic mosaic monosomy 20 cell line. The likely mechanism of origin is post-zygotic nondisjunction giving rise to monosomy, disomy and trisomy cell(s) in the same or different tissues. Although no other trisomy 20 cells were found, the abnormal phenotype plus the finding of a monosomy 20 cell line make this mechanism the most plausible explanation. Had we dismissed the single-cell abnormality, the cryptic mosaicism of monosomy 20 would not have been identified. A detailed analysis of all tissues accessible in conjunction with careful consideration of all clinical information available is the best course of action in suspected mosaicism.

Abnormalities, Multiple↗
PubMed2006

A retrospective study of preimplantation embryos diagnosed with monosomy by fluorescence in situ hybridization (FISH).

This report is a retrospective study of preimplantation embryos diagnosed with monosomy for chromosomes 13, 15, 16, 18, 21, 22, X and Y on day 3 to determine the rate of true positives, false positives and/or mosaicism and to assess if these embryos are suitable for in vitro fertilization (IVF) transfer. In a one year period, 80 patients went through preimplantation genetic diagnosis for aneuploidy screening (PGD-AS). Monosomy was diagnosed in 51 embryos. Fluorescence in situ hybridization (FISH) was then performed on the blastomeres at day 5-7 with commercially available probes using the same probe set that initially identified monosomy for chromosomes 13, 16, 21 and 22 or chromosomes 15, 18, X and Y. Based on FISH analysis, the monosomy diagnosed during routine PGD-AS analysis was confirmed in 17 of the 51 embryos. A euploid result for the specific chromosomes tested was observed in 16 of the 51 embryos while mosaicism was found in the remaining 18 embryos. This results in an estimated false positive rate of 3.8% for a diagnosis of monosomy. Reanalysis of these embryos demonstrates that the majority of monosomy diagnoses represents true monosomy or mosaicism and should be excluded for transfer in IVF. Furthermore, improved understanding from recent emerging data regarding the fate of oocytes in women with advanced maternal age undergoing IVF to the development of early embryos may provide a valuable insight into the mechanism of chromosome mosaicism.

Adult↗
PubMedDate not supplied

[Characteristics of phenotypic expression of autosomal monosomies during pathological postimplantation human development].

Autosomal monosomies represent a severe form of genomic disbalance which determines elimination of human embryos already at the preimplantation stages. As a rule, they occur very rarely in the materials of spontaneously aborted embryos and fetuses. Molecular-cytogenetic studies were carried out on the karyotype of cells of 60 spontaneous abortuses of I trimester of pregnancy with cell degeneration or absence of cell proliferation in the cultures, as a result of which the cells could not be studied using the standard metaphase analysis. The embryos were characterized by an unexpectedly high frequency of mosaic variants of monosomies for chromosomes 7, 15, 21, and 22, which amounted to 19% of all chromosome aberrations. Lethal forms of monosomies for human chromosomes 7 and 15 were described for the first time, since they are not found in spontaneous abortuses by standard cytogenetic methods. A hypothesis was proposed which accounts for the possibility of early postimplantation lethality of the embryos with mosaic forms of autosomal monosomies. The differences were found between the cells with monosomies for different autosomes in the mechanisms of origin, intertissue localization, and phenotypic effects. It was shown that monosomies for chromosomes 7, 15, 21, and 22 in a mosaic state with the normal cell line can be compatible with the early stages of postimplantation differentiation of the cytotrophoblast. Predominant compartmentalization of the cells with monosomies for chromosomes 21 and 22 in the extraembryonic mesoderm, a derivative of epiblast, can be a critical factor, which makes it impossible the normal morphogenesis of embryonic structures.

Aborted Fetus↗
PubMed1992

Clonal analysis of myelodysplastic syndrome: monosomy 7 is expressed in the myeloid lineage, but not in the lymphoid lineage as detected by fluorescent in situ hybridization.

Conflicting results have been published on whether or not myelodysplastic syndromes (MDS) affect all cell lineages. Involvement of myeloid and erythroid cell lineages has been regularly observed, but it remains controversial whether the different lymphoid cell lineages are involved. In this study of eight patients with MDS associated with monosomy 7, fluorescent in situ hybridization (FISH) was used to enumerate the chromosomes 7 in interphase cells. With the probe D7Z1, the rate of false-positive detection of monosomy 7 was 3% +/- 2% in normal cells. T- and B-cell lines were established from eight patients with MDS and monosomy 7. As determined by FISH in interphase cells, 1.9% (0% to 3%) of the cells in the B-cell lines showed one fluorescent spot and 1.1% (0% to 2.9%) of the cells in the T-cell lines. These values do not differ from normal values. However, the possibility that normal cells were selected when the T- and B-cell lines were established could not be excluded. Therefore, peripheral blood cells were obtained, separated according to surface markers specific for lymphoid and myeloid cell lineage with a cell sorter, and analyzed for the expression of monosomy 7 by FISH. Antibodies recognizing T cells (CD3), B cells (CD20), natural killer (NK) cells (CD57), monocytes and granulocytes (low and high expression of CD11b antigen), and myeloid progenitors (CD33) were used to separate cells. The expression of monosomy 7 in the T cells, NK cells, and B cells did not differ from control values. These results in the lymphoid subpopulations are in stark contrast with the observations in the myeloid populations; the percentage of cells with monosomy 7 ranged from 9% to 78% (controls: 6% +/- 2%) in cells with low CD11b expression, 20% to 89% in cells with a high expression of the CD11b antigen (controls: 7% +/- 3%), and 23% to 91% in the CD33 positive cells (controls: 5% +/- 3%). The results of this study suggest that monosomy 7 does not usually affect lymphoid subpopulations but is restricted to committed progenitor cells with the capacity to differentiate into mature myeloid cells.

Adolescent↗
PubMed2000

Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome.

We have ascertained and examined a patient with autistic disorder (AD) and monosomy X (Turner syndrome). The patient met Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)/International Classification of Diseases (ICD-10) criteria for AD verified by the Autism Diagnostic Interview-Revised. The patient exhibited both social and verbal deficits and manifested the classical physical features associated with monosomy X. Skuse et al. [1997: Nature 387:705-708] reported three such cases of AD and monosomy X in their study of Turner syndrome and social cognition. They observed that monosomy X females with a maternally inherited X chromosome had reduced social cognition when compared with monosomy X females with a paternally inherited X chromosome. All three cases of AD and monosomy X were maternally inherited. Based on their data, they suggested that there was a gene for social cognition on the X chromosome that is imprinted and not expressed when the X chromosome is of maternal origin. Thus, we conducted parent-of-origin studies in our AD/monosomy X patient by genotyping X chromosome markers in the patient and her family. We found that the patient's X chromosome was of maternal origin. These findings represent the fourth documented case of maternal inheritance of AD and monosomy X and provide further support for the hypothesis that parent-of-origin of the X chromosome influences social cognition.

Adult↗
PubMed2004

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12.

Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of trisomy 12q that has been reported as a clinically identifiable syndrome, monosomy 12p is characterized by a wide phenotypic spectrum. We report two cousins suffering from severe mental retardation, seizures, and dysmorphic features related to a trisomy 12q24.3-->qter and a monosomy 12p13-->pter resulting from a familial pericentric inversion of chromosome 12. In an attempt to improve the clinical delineation of these two syndromes, we compared our two patients with previous reports of these aneusomies. This review emphasizes the high frequency of familial translocations, including a breakpoint at 12q24 involved in trisomy 12q whereas monosomy 12p occurs most frequently de novo. Despite the poor specificity of the signs, this comparison allowed us to determine the clinical features present in more than 20% of patients with trisomy 12q or monosomy 12p. We particularly emphasize some consistent leading features of monosomy 12p, including microcephaly, dental, cardio-vascular, extremity, and sensorial abnormalities, initially not reported as recurrent in this syndrome.

Child, Preschool↗
PubMed2005

Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.

We describe a patient in whom full monosomy 21 was initially assumed from routine GTG-banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 18 and 21. Fluorescence in situ hybridisation (FISH) and microsatellite marker analysis revealed partial monosomy of chromosome 21 (pter-q21) and 18(q22-qter). The patient, 18 years old at the second examination, revealed multiple dysmorphic features, genital hypoplasia, dilated cerebral ventricles, muscular hypotonia and severe mental retardation. In not one out of all patients investigated postnatally in whom an initial examination had revealed monosomy 21, this could be confirmed by FISH; in all of them, re-examination detected an unbalanced rearrangement leading to only partial monosomy 21 plus partial monosomy of another chromosome to which the distal 21q segment was attached. Thus, it is still highly likely that full monosomy 21 is incompatible with intra-uterine survival.

Abnormalities, Multiple↗
PubMed1999

Chromosome 9 monosomy by fluorescence in situ hybridization of bladder irrigation specimens is predictive of tumor recurrence.

PURPOSE: Bladder irrigation specimens are effective for sampling the urothelium for detection of recurrent bladder cancer. These specimens can be evaluated by cytology or quantitative techniques. Proliferation and ploidy changes are readily detected using deoxyribonucleic acid (DNA) cytometry. Tumor associated chromosomal aberrations can be assayed using fluorescence in situ hybridization (FISH). The prognostic values of DNA cytometry, and chromosome 9 and 9p21 FISH on exfoliated cells from bladder irrigation specimens from 61 bladder cancer patients were evaluated. MATERIALS AND METHODS: A total of 61 consecutive bladder irrigation specimens were obtained during cystoscopy. DNA cytometry was performed by image analysis. FISH was performed using a centromeric chromosome 9 probe and a cosmid contig (COSp16) probe to the CDKN2A/p16 tumor suppressor region of 9p21. Proportional hazards regression analysis was performed with statistical software to test the predictor variables of initial patient status (presence of tumor), COSp16 fraction (the proportion of COSp16 signals relative to centromeric probe signals), monosomic and hyperdisomic fractions of the chromosome 9 probe, and hyperdiploid fraction from DNA cytometry. Median time to recurrence was calculated using statistical software survival analysis. RESULTS: Initial patient status and monosomy of chromosome 9 were predictive of bladder cancer recurrence (p <0.0001 and p = 0.0073, respectively). The 11 patients with chromosome 9 monosomy fractions greater than 15% and a visible tumor had a median time to recurrence of 105 days. In contrast, only 8 of the 25 patients with chromosome 9 monosomy fractions less than 15% and no visible tumor had recurrence within 560 days. Median time to recurrence was 185 days for 6 patients with chromosome 9 monosomy fractions greater than 15% and no visible tumor, and 225 for 19 with chromosome 9 monosomy fractions less than 15% and a visible tumor. Hyperdiploid fraction was suggestive but not predictive of bladder cancer recurrence (p = 0.078). COSp16 and hyperdisomic fractions were not predictive of bladder tumor recurrence (p = 0.11 and p = 0.30, respectively). CONCLUSIONS: Chromosome 9 monosomy by FISH was predictive of bladder tumor recurrence. Furthermore, our findings support the hypothesis that losses of tumor suppressor genes on chromosome 9 are critical, perhaps initiating genetic events in bladder cancer.

Adult↗
PubMed1998

Cytogenetic clonality analysis in monosomy 7 associated with juvenile myelomonocytic leukemia: clonality in B and NK cells, but not in T cells.

It remains unclear which lymphoid lineages are involved in juvenile myelomonocytic leukemia (JMML). We report a JMML patient who acquired monosomy 7 after intensive chemotherapy. In this case, the expression of monosomy 7 was analyzed in T, B and natural killer (NK) cells highly purified from peripheral blood mononuclear cells of the patient. The fluorescence in situ hybridization method revealed the expression of monosomy 7 in B cells, but not T cells. Half of the NK cells expressed monosomy 7; when NK cells were divided into CD2- and CD2+ populations, this abnormality was positive in 91.1% of CD2- NK cells but in only 14.7% of CD2+ NK cells. These results suggest that, in this JMML patient who acquired monosomy 7 after intensive chemotherapy, B cells and half of NK cells, but not T cells, have monosomy 7.

B-Lymphocytes↗
PubMed2003

Monosomy 21 in hematologic diseases.

Monosomy 21 mosaicism as a sole cytogenetic abnormality is very uncommon, with 47 cases described in the literature. We identified five cases of low-level monosomy 21 mosaicism since 1998, none of which were confirmed by fluorescence in situ hybridization (FISH) analysis or follow-up cytogenetic studies. These five cases, and many of the previously reported cases, probably represent the random appearance of several monosomy 21 cells as artifacts of cell culture or microscope slide preparation. The most convincing reported cases of monosomy 21 mosaicism suggest a rare association of monosomy 21 with acute myelocytic leukemia and chronic lymphocytic leukemia. Future cases suggestive of monosomy 21 mosaicism should be confirmed by analysis of additional metaphase cells and by FISH analysis of interphase cells.

Aged↗
PubMed2003

Monosomy 7p in meningiomas: a rare constituent of tumor progression.

We present karyotypes of 15 meningiomas with structural aberrations of chromosome 7, which were taken from a consecutive series of 400 cytogenetically characterized meningiomas. Twelve of these tumors (80%) displayed partial or complete monosomy 7p with a consensus deleted region of 7p12 approximately pter, in 6 of 15 cases arising from an unbalanced whole-arm t(1;7)(q11;p11), and in 4 of 15 cases from a whole-arm translocation involving other chromosomes. Other types of partial aneusomy 7 (3/15 cases) or balanced aberrations of chromosome 7 (2/15 cases) were relatively rare. In most cases (11/15), the centromeric region of chromosome 7 was involved in the rearrangements. We conclude that in meningiomas, the near-centromeric region of chromosome 7 is particularly prone to structural rearrangements most frequently resulting in monosomy 7p. The investigation of the histopathologic features of this rare cytogenetic subgroup of meningiomas showed no clear genotype/phenotype correlation. As 7 of 11 of the meningiomas with monosomy 7p belonged to World Health Organization grades II or III, which usually comprise less than 20% of all meningiomas, partial loss of 7p appears to be involved in tumor progression in meningiomas. Because monosomy 7p is typically associated with the strongly progression-associated monosomy 1p, however, monosomy 7p represents a cofactor more than a stand-alone feature of meningioma progression.

Adult↗
PubMed2000

Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell.

Familial acute myeloid leukemia (AML) with monosomy 7 is a rare syndrome with fewer than 10 families reported. The salient features included a young median age (8 years) at presentation, equal sex preference, and occurrence of cytopenias and myelodysplasia in nonleukemic family members. Owing to its rarity and the fact that many cases were reported quite some time ago, detailed clinicopathologic features of familial monosomy 7 were not available. We describe a family with three siblings affected by AML in whom monosomy 7 was demonstrated. This family showed several unique features, including the late onset of AML (at 34 and 37 years of age in two siblings), and the presence of an antecedent myelodysplastic phase before leukemia development. With fluorescence in situ hybridization, the monosomy 7 clone was shown to be capable of partial maturation, which was consistent with the biologic behavior of myelodysplasia. These observations suggest that familial leukemia with monosomy 7 is probably a multistep leukemogenic process in which monosomy 7 might be but one of the critical steps. Finally, the prognosis in these cases was poor, suggesting that more aggressive therapy may be needed to improve treatment outcome.

Adolescent↗
PubMed1998

Granulocyte colony-stimulating factor (G-CSF) dependent hematopoiesis with monosomy 7 in a patient with severe aplastic anemia after ATG/CsA/G-CSF combined therapy.

We report a case of secondary myelodysplastic syndrome (MDS) with monosomy 7, which evolved from severe aplastic anemia (SAA) after long-term use of granulocyte colony-stimulating factor (G-CSF). A 36 year old female was admitted for detailed examination and treatment of pancytopenia. SAA was diagnosed based on hypoplastic bone marrow and a normal chromosome study. She was treated with anti-thymocyte globulin (ATG), ciclosporin A (CsA) and G-CSF, which resulted in gradual improvement of not only the myeloid but also the erythroid-megakaryocyte series. However, bone marrow dysplasia with monosomy 7 was observed after 7 months of a combination therapy of immunosuppressant and G-CSF, which prompted the discontinuation of G-CSF administration. Thereafter, bone marrow hypoplasia gradually progressed, resulting in a second aplastic crisis. During this process, the proportion of marrow cells showing monosomy 7 decreased, and the proportion with normal karyotype increased. Re-administration of G-CSF induced a trilineage, though dysplastic, hematological response; but the monosomy 7 positive population increased again. These observations indicated the presence of G-CSF dependent hematopoiesis associated with monosomy 7 in this patient. Although many G-CSF related MDS/AML cases with this leukemia-specific abnormal karyotype have been reported with emphasis on the harmful effects of G-CSF, G-CSF was useful even after the appearance of monosomy 7 as a means of avoiding life-threatening infection in this patient.

Adult↗
PubMed1991

Monosomy 7 syndrome in an infant with neurofibromatosis.

A 9-month-old boy with known familial neurofibromatosis type I (NF-1) presented with a clinical and laboratory picture suggestive of juvenile chronic myelomonocytic leukemia (JCMMoL). Chromosomal studies obtained from the bone marrow indicated, however, that he had monosomy 7 syndrome. We believe this is the first reported case of monosomy 7 syndrome in a child with NF in the United States, and that this case complements a recent report of two cases of NF, JCMMoL, and monosomy 7 in Japanese children. Since monosomy 7 syndrome is very difficult to differentiate from JCMMoL or acute nonlymphocytic leukemia (ANLL) unless appropriate chromosomal studies are obtained, we believe it is possible that monosomy 7 may occur with increased frequency in patients with NF-1. Monosomy 7 syndrome might therefore be a significant cause of the known association between NF-1 and nonlymphoid leukemia.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1994

Reactive oxygen species of neutrophils from patients with monosomy 7 in the bone marrow: contradictory chemiluminescence activity by whole blood or by purified cells.

Monosomy 7, a deletion of the long arm of chromosome 7, was shown in the neutrophils of peripheral blood in 5 of 6 patients with a myelodysplastic syndrome or leukemia who had monosomy 7 in their bone marrow cells. In a chemiluminescence assay the production of reactive oxygen species by neutrophils from patients was increased in whole blood and decreased in purified cells, which suggests that neutrophils with monosomy 7 tolerate poorly the cell purification procedures used. The in vitro migration of purified neutrophils obtained from patients with monosomy 7 was impaired. It is known that patients with monosomy 7 have an increased susceptibility to infections. It is possible that neutrophils with monosomy 7 are too easily triggered to a full-scale respiratory burst and thereby the cells exhaust their ability to eliminate invading microbes efficiently.

Adult↗
PubMed2004

Identification of monosomy 3 in choroidal melanoma by chromosome in situ hybridisation.

BACKGROUND/AIMS: In uveal melanoma monosomy 3 is emerging as a significant indicator of a poor prognosis. To date most cytogenetic studies of uveal melanoma have utilised fresh tissue or DNA extracted from tissue sections. In this study chromosome in situ hybridisation (CISH) was used to study monosomy 3 in tissue sections. The copy number of chromosome 3 was determined and related to patient survival. METHODS: Archival glutaraldehyde or formalin fixed, paraffin embedded material was obtained from 30 metastasising and 26 non-metastasising choroidal melanomas. Hybridisations were performed using centromere specific probes to chromosomes 3 and 18. Chromosome 18 was included as a control as previous abnormalities in uveal melanoma have not been described. Chromosomal imbalance was defined on the basis of changes in both chromosome index and signal distribution. RESULTS: CISH was successfully performed on both glutaraldehyde and formalin fixed tissue. Four cases were unsuccessful because of extensive tumour necrosis. All cases were balanced for chromosome 18. Monosomy 3 was detected in 15 of the 26 cases of metastasising melanoma; the 26 non-metastasising tumours were all balanced for chromosome 3. Monosomy 3 was significantly associated with metastases related death. CONCLUSION: CISH can successfully identify monosomy 3 in archival glutaraldehyde or formalin fixed, paraffin embedded tissue sections. Similar to previous studies monosomy 3 is a significant predictor of metastases related death.

Adolescent↗
PubMed2005

X chromosome monosomy: a common mechanism for autoimmune diseases.

The majority of human autoimmune diseases are characterized by female predominance. Although sex hormone influences have been suggested to explain this phenomenon, the mechanism remains unclear. In contrast to the role of hormones, it has been suggested, based on pilot data in primary biliary cirrhosis, that there is an elevation of monosomy X in autoimmune disease. Using peripheral white blood cells from women with systemic sclerosis (SSc), autoimmune thyroid disease (AITD), or healthy age-matched control women, we studied the presence of monosomy X rates using fluorescence in situ hybridization. We also performed dual-color fluorescence in situ hybridization analysis with a chromosome Y alpha-satellite probe to determine the presence of the Y chromosome in the monosomic cells. In subsets of patients and controls, we determined X monosomy rates in white blood cell subpopulations. The rates of monosomy X increased with age in all three populations. However, the rate of monosomy X was significantly higher in patients with SSc and AITD when compared with healthy women (6.2 +/- 0.3% and 4.3 +/- 0.3%, respectively, vs 2.9 +/- 0.2% in healthy women, p < 0.0001 in both comparisons). Importantly, X monosomy rate was more frequent in peripheral T and B lymphocytes than in the other blood cell populations, and there was no evidence for the presence of male fetal microchimerism. These data highlight the thesis that chromosome instability is common to women with SSc and AITD and that haploinsufficiency for X-linked genes may be a critical factor for the female predominance of autoimmune diseases.

Adult↗
PubMed1996

Diabetes insipidus, acute myelogenous leukemia, and monosomy 7.

Diabetes insipidus together with acute myelogenous leukemia has rarely been seen. Still rarer is the occurrence of monosomy 7 with the two diseases (only six cases reported). A patient who had diabetes insipidus develop before the diagnosis of acute myelogenous leukemia was found at karyotyping to have monosomy 7. Although a specific mechanism whereby monosomy 7 would cause diabetes insipidus has been proposed, some have suggested that monosomy 7 may have its effect by altering cell wall membranes. Others have suggested that acute myelogenous leukemia causes diabetes insipidus by causing infiltrates in the hypothalamus or posterior lobe of the pituitary gland. Magnetic resonance imaging of the patient's brain showed no abnormalities of the hypothalamus or pituitary gland. Lumbar puncture revealed no leukocytes in the cerebrospinal fluid. The authors believe that the cause of diabetes insipidus can be explained in patients with acute myelogenous leukemia by checking for monosomy 7 during karyotyping. Because karyotyping is now more frequently performed in evaluation of patients for chemotherapy or bone marrow transplantation, genetic abnormalities such as monosomy 7 will become increasingly apparent.

Anti-Bacterial Agents↗