Relevant bibliographies by topics / Chromosome 21 – Aberrations chromosomiques

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Academic literature on the topic 'Chromosome 21 – Aberrations chromosomiques'

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Published: 4 June 2021
Last updated: 17 February 2022

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Journal articles on the topic "Chromosome 21 – Aberrations chromosomiques"

1

Dubé, Martin, Pierre Morisset, and Janouk Murdock. "Races chromosomiques chez Festuca rubra sensu lato (Poaceae) dans l'est du Québec." Canadian Journal of Botany 63, no. 2 (February 1, 1985): 227–31. http://dx.doi.org/10.1139/b85-026.

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Twenty-eight chromosome number determinations in Festuca rubra L. s.l. from eastern Québec show the occurrence of both hexaploids (n = 21) and octoploids (n = 28). Some characters distinguish both cytotypes, but they can be modified by cultivation. All the octoploids are identified as F. diffusa Dumort., an introduced species.
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2

Gervais, C., R. Trahan, D. Moreno, and A. M. Drolet. "Le Phragmites australis au Québec: distribution géographique, nombres chromosomiques et reproduction." Canadian Journal of Botany 71, no. 10 (October 1, 1993): 1386–93. http://dx.doi.org/10.1139/b93-166.

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A study of Phragmites australis (Cav.) Trin. ex Steud., the common reed, was conducted in Quebec between 1985 and 1991. Its present and former geographical distributions (before and after 1950) were established, the chromosome numbers of 52 individuals were determined, and various observations on the reproduction of this species by seed were made. The geographical distribution was outlined after consultation of 21 north-eastern american herbaria and upon in situ observations along roadsides in most parts of inhabited Québec. Concurrently, 77 representative populations were selected and visited in the summer and fall of 1985, allowing the observation of the degree of flower development, the frequency of seed setting, and the presence of smut, Claviceps microcephala (Wallr.) Tul. The chromosome numbers show a high degree of aneuploidy and vary between 2n = 42 and 59. The nordic populations tend to have a lower chromosome number and a faster flower development. In fact, for a given geographical area and date of collection, the flowers of the individuals with higher chromosome numbers are usually less developed. There is however a persistent problem with the evaluation of the chromosome number of a stand because of internal variations. Seed production is generally very low, but some stations, even nordic, are quite productive (up to 59.2% of flowers with seeds). The seeds are able to germinate under laboratory conditions, but it is not known yet if the plant can reproduce in this manner in the field. The seedlings develop slowly and seem to have poor competitiveness. Key words: Phragmites australis, distribution, chromosome numbers, reproduction, Quebec, weed.
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3

Van Opstal, Diane, Jan O. Van Hemel, Bert H. J. Eussen, Annet Van Der Heide, Cardi Van Den Berg, Peter A. In't Veld, and Frans J. Los. "A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei." Prenatal Diagnosis 15, no. 8 (August 1995): 705–11. http://dx.doi.org/10.1002/pd.1970150805.

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4

Lichter, P., T. Cremer, C. J. Tang, P. C. Watkins, L. Manuelidis, and D. C. Ward. "Rapid detection of human chromosome 21 aberrations by in situ hybridization." Proceedings of the National Academy of Sciences 85, no. 24 (December 1, 1988): 9664–68. http://dx.doi.org/10.1073/pnas.85.24.9664.

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5

Mokhtar, M. M. "Chromosomal aberrations in children with suspected genetic disorders." Eastern Mediterranean Health Journal 3, no. 1 (January 15, 1997): 114–22. http://dx.doi.org/10.26719/1997.3.1.114.

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Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. A total of 53 [38.7%] had an abnormal karyotype:trisomy 21 [36;26.3%], trisomy 18 [3;2.2%], trisomy 13 [1;0.7%], partial autosomal aneuploidy [5;3.6%], pericentric inversion of chromosome 9 [2;1.5%], marker chromosome [2;1.5%] and sex chromosome aberrations [4;2.9%]. All of them showed phenotypic-cytogenetic heterogeneity. These findings suggest that cytogenetic analysis is useful in the investigation of children with genetic disorders of unknown origin to confirm clinical diagnosis and to allow for proper genetic counseling
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6

Braulke, Friederike, Julie Schanz, Michael Metz, Sven Detken, Joerg Seraphin, Katharina Götze, Catharina Mueller-Thomas, et al. "Detection of Karyotype Evolution From Peripheral Blood by Sequential FISH Analyses of Circulating CD34+ Cells In MDS Patients: Results of the Ongoing German Multicenter Prospective Diagnostic Study." Blood 116, no. 21 (November 19, 2010): 2937. http://dx.doi.org/10.1182/blood.v116.21.2937.2937.

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Abstract Abstract 2937 Introduction: Chromosomal aberrations in myelodysplastic syndromes (MDS) play a major role in diagnostics, pathogenesis, prognosis, and, more recently, in treatment allocations. The acquisition of clonal abnormalities in pts with initially normal karyotype, the expansion of an aberrant cell clone with a given anomaly or the occurrence of new abnormalities are called karyotype evolution (KE). A model of stepwise cytogenetic changes is proposed, but only a few systematic studies had focused on this phenomenon as yet. Chromosomal anomalies can be detected by conventional chromosome banding analyses of bone marrow (bm) metaphases and most of them are provable by Fluorescence in Situ Hybridization (FISH) of circulating CD34+ cells from peripheral blood (pb). Aims: To closely follow chromosomal aberrations from pb, to assess karyotype evolution and rare anomalies and to correlate the molecular-cytogenetic results with pb blood counts, bm morphology and treatment modalities. For this purpose, we initiated a German multicenter prospective, non-interventional diagnostic study in October 2008. Methods: Sequential FISH analyses were performed on immunomagnetically enriched circulating CD34+ cells from pb as follows: a “super-panel” (D7/CEP7, EGR1, CEP8, CEP XY, D20, p53, IGH/BCL2, TEL/AML1, RB1, MLL, 1p36/1q25, CSF1R) was used for initial screening, every 12 months during follow-up and in every case of suspected progression. A “standard-panel” (EGR1, D7/CEP7, CEP8, p53, D20, CEP X/Y, TEL/AML1) was performed for analyses at short intervals every 2 months in the 1st year and every 3 months during the 2nd year. Results were also correlated with those of conventional banding and FISH analyses performed on bm samples, which typically were collected every 6 months. Results: As yet, 205 pts have been included in the study. Concerning median age, gender distribution, and MDS subtypes (according to WHO and IPSS) the study cohort was representative for the disease. Up to date, chromosomal aberrations were detectable in 126 pts. (62%) by FISH from pb. Most of them had 1 or 2 anomalies, but there were even pts with 4 or more aberrations. The most common aberrations- as known from other studies based on bm analyses- were del(5q) (64%), aberrations of chromosome 7 (del(7q)/-7) (25%), allelic loss of p53 (12%), +8 (11%), del(20q) (10%) and aberrations of chromosome 21 (del(21q)/-21/+21) (7%). Interestingly, a 12p-deletion was detectable as often as a trisomy 8 (11%), and in most cases as part of complex aberrations. A loss of p53 was significantly associated with aberrations of chromosome 7: 67% of pts with aberrations of chromosome 7 showed an allelic loss of p53 at the same time. In 4 cases, a coexistence of del(7q) and -7 in the same clone was observed. Within a median observation time of 7 months (2-21), a KE was detectable from pb by FISH in 17 pts (13%) out of 135 with at least 2 sequential analyses. In most cases del(7q)/-7 developed as a new anomaly, and was followed in frequency by aberrations of chromosome 21. Conclusions: FISH analyses of enriched circulating CD34+ cells are a feasible, less-invasive method to detect chromosomal aberrations in MDS pts and to follow the clone size from peripheral blood. By that method we are able to observe karyotype evolution as a step wise process in detail and to follow even rare abnormalities to learn more about their clinical and prognostic impact. Disclosures: No relevant conflicts of interest to declare.
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Haferlach, Claudia, Susanne Schnittger, Tamara Weiss, Wolfgang Kern, Brunangelo Falini, and Torsten Haferlach. "About 17% of AML with NPM1 mutations Show a Specific Pattern of Chromosome Aberrations but These Cases Do Not Differ Prognostically from AML with NPM1 Mutations Carrying a Normal Karyotype." Blood 112, no. 11 (November 16, 2008): 2527. http://dx.doi.org/10.1182/blood.v112.11.2527.2527.

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Abstract AML with mutated nucleophosmin gene (AML NPM1mut) usually carries a normal karyotype and will be suggested as a provisional entity in the new WHO classification. Thus far, the impact of chromosome aberrations in AML NPM1mut has not been evaluated in detail. Aim of this study was to determine the incidence and prognostic impact of clonal chromosome aberrations in NPM1mut. We further compared this pattern to additional aberrations in AML with recurrent genetic aberrations: t(8;21)(q22;q22), inv(16)(p13q22)/t(16;16)(p13;q22), t(15;17)(q22;q12) and 11q23-abnormalities leading to an MLL-rearrangement. In total 415 AML (de novo AML: 392, s-AML: 11, t-AML: 12) showing an NPM1 mutation were analyzed by chromosome banding analysis. 71 of these showed clonal chromosome aberrations (17.1%; de novo AML: 63 (16.1%), s-AML: 5 (45.5%), t-AML: 3 (25%); de novo AML vs. s-AML: p=0.024). Overall, 111 chromosome aberrations were observed. The most frequent abnormalities were +8 (n=30), −Y (n=10), +4 (n=9), del(9q) (n=5), +21 (n=4), −7 (n=3), +5 (n=2), +10 (n=2), +13 (n=2),+18 (n=2), del(12p) (n=2), del(20q) (n=2), other non-recurrent balanced aberrations (n=6), other non-recurrent unbalanced aberrations (n=32). For comparison 63 AML with t(8;21), 37 cases with inv(16)/t(16;16), 83 patients with t(15;17) and 83 AML showing a 11q23/MLL-rearrangement were evaluated. 44 (69.7%), 13 (35.1%), 39 (47%), and 28 (43.1%) cases showed clonal chromosome aberrations in addition, respectively. Therefore, additional chromosomal aberrations are more frequent in all these subgroups than in the AML NPM1mut. Similar to NPM1mut cases +8 (n=2), −X/Y (n=32), +4 (n=2), and del(9q) (n=10) were observed. The only other recurrent additional aberrations was del(11q) (n=2). In inv(16)/t(16;16) we also found +8 (n=5) and −Y (n=1). The only other recurring additional aberrations were +22 (n=6) and del(7q) (n=2). In AML with t(15;17) recurring additional abnormalities were +8 (n=12), −Y (n=3), del(9q) (n=2), ider(17)(q10) t(15;17) (n=7). AML with 11q23/MLL-rearrangement showed +4 (n=2), +8 (n=8), +13 (n=2), +19 (n=4), +21(n=4), +22 (n=2), −Y (n=1). Thus, chromosome aberration in AML NPM1mut share many overlaps to those in AML with recurrent aberrations. Furthermore, the prognostic impact of chromosome aberrations in AML NPM1mut was evaluated. No difference with respect to overall survival (OS) and event-free survival (EFS) was observed between AML NPM1mut with a normal (n=344) and an aberrant karyotype (n=71) (OS at 2 yrs 78% vs. 81%, p=0.969; EFS at 2 yrs 40% vs. 50%, median EFS 544 days vs. 522 days, p=0.253). The FLT3-ITD status was available in 400 cases. 127 (38%) of 334 cases with a normal karyotype showed a FLT3-ITD, while in only 16 (24%) of 66 cases with an aberrant karyotype a FLT3-ITD was observed (p=0.035). While the negative prognostic impact of additional FLT3-ITD was confirmed in our cohort, the presence of chromosome aberrations did not influence prognosis neither in the FLT3-ITD negative nor in the FLT3-ITD positive subgroup. In addition, 31 patients with AML NPM1mut were analyzed by chromosome banding analysis at diagnosis and at relapse (median time diagnosis to relapse: 301 days (range: 71–986). 22 cases (71%) showed a normal karyotype both at diagnosis and relapse. In 4 cases a normal karyotype was observed at diagnosis and an aberrant karyotype at relapse (del(9q) (n=2), t(2;11) (n=1), inv(12) (n=1)). One case with +8 at diagnosis showed +8 also at relapse. One case with +4 at diagnosis showed +4 and additional aberrations at relapse. In 1 case clonal regression was observed (+21 -> normal). One case with an unbalanced 1;3-translocation at diagnosis showed a der(17;18) (q10;q10) at relapse and one case with −Y at diagnosis showed a del(3p) at relapse. In conclusion: 1. Frequency of additional chromosome aberrations is low in AML NPM1mut as compared to other genetically defined WHO entities. 2. The pattern of additional chromosome aberrations is overlapping between the 5 groups analyzed. 3. Chromosome aberrations observed at diagnosis in AML NPM1mut do not influence prognosis in comparison to AML NPM1mut with normal karyotype. 4. The karyotype is stable in most AML NPM1mut patients at diagnosis and at relapse. These results point to chromosomal aberrations occurring in AML NPM1mut as secondary events and further support inclusion of AML NPM1mut as a provisional entity in the new WHO classification.
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Neben, Kai, Christian Giesecke, Silja Schweizer, Anthony D. Ho, and Alwin Krämer. "Centrosome aberrations in acute myeloid leukemia are correlated with cytogenetic risk profile." Blood 101, no. 1 (January 1, 2003): 289–91. http://dx.doi.org/10.1182/blood-2002-04-1188.

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Abstract Genetic instability is a common feature in acute myeloid leukemia (AML). Centrosome aberrations have been described as a possible cause of aneuploidy in many human tumors. To investigate whether centrosome aberrations correlate with cytogenetic findings in AML, we examined a set of 51 AML samples by using a centrosome-specific antibody to pericentrin. All 51 AML samples analyzed displayed numerical and structural centrosome aberrations (36.0% ± 16.6%) as compared with peripheral blood mononuclear cells from 21 healthy volunteers (5.2% ± 2.0%; P < .0001). In comparison to AML samples with normal chromosome count, the extent of numerical and structural centrosome aberrations was higher in samples with numerical chromosome changes (50.5% ± 14.2% versus 34.3% ± 12.2%; P < .0001). When the frequency of centrosome aberrations was analyzed within cytogenetically defined risk groups, we found a correlation of the extent of centrosome abnormalities to all 3 risk groups (P = .0015), defined as favorable (22.5% ± 7.3%), intermediate (35.3% ± 13.1%), and adverse (50.3% ± 15.6%). These results indicate that centrosome defects may contribute to the acquisition of chromosome aberrations and thereby to the prognosis in AML.
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Glasmacher, Axel, Corinna Hahn, Andrea Juttner, Regine Schubert, Barbara Busert, Gesa Schwanitz, and Ingo G. H. Schmidt-Wolf. "Chromosome Aberrations in 130 Patients with Multiple Myeloma Detected by Interphase FISH and Their Diagnostic and Prognostic Relevance." Blood 104, no. 11 (November 16, 2004): 4938. http://dx.doi.org/10.1182/blood.v104.11.4938.4938.

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Abstract Recent publications have shown that chromosomal abnormalities in patients with leukemias play an important role with respect to therapy and prognosis. In multiple myeloma (MM) the role of specific cytogenetic changes relevant for the prognosis is still to be defined. Recent data suggest that much more patients show chromosomal aberrations than previously suspected, but differentiation between main and side lines of karyotype evolution was problematic. In the present investigation, cytogenetic analysis was performed using interphase FISH in 130 patients with multiple myeloma. For hybridization, 9 repetitive (chromosomes 3, 7, 9, 11, 15, 17, 18, X, Y) and 7 single copy probes (2x5, 13, 17, 21, 2x22) were used. Aberrations were detected in 87% of the patients. Most cases showed 1–3 aberrations. There was a correlation between the number of aberrations per patient and the tumor stage. E.g. the percentage of patients with 7–12 aberrations increased from 16% in stage II to 28% in stage III. Gains and losses of chromosomes showed significant interchromosomal differences with gains being more frequent than losses. Chromosomes 3, 5, 7, 9, 21 and 22 showed predominantly gains. Losses were found in chromsomes 13, 17, X and Y. But monosomy of sex chromosomes (average age of 63.5 years) may be in part explained by the age of the patients. For chromosomes 15 and 18 a similar number of monosomies and trisomies was found which might be caused by mitotic nondisjunction. Deletions 13q14 (28%), gain of 11q13 and translocation of IgH locus 14q32 (79%) are specific aberrations detected in 39 patients analysed with specific DNA probes of the relevant loci. All three aberrations led to modified survival times of the patients. Summarizing our results in 130 patients with MM, we found that the number of numerical chromosomal aberrations as well as selected structural aberrations proved to be of diagnostic and prognostic relevance.
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Craddock, Nick, and Mike Owen. "Chromosomal Aberrations and Bipolar Affective Disorder." British Journal of Psychiatry 164, no. 4 (April 1994): 507–12. http://dx.doi.org/10.1192/bjp.164.4.507.

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Chromosomal abnormalities associated with bipolar disorder may help in the localisation of susceptibility genes for bipolar illness by pinpointing ‘candidate’ regions of the genome for further study using molecular genetic methods. We review descriptions of chromosomal abnormalities in association with bipolar and related affective disorders and evaluate their relevance for localising susceptibility genes for bipolar disorder, using standardised criteria. We found 28 reports. We identified four genomic regions of potential interest: 11q21-25; 15q11-13; chromosome 21; Xq28. It is important that clinicians are able to recognise patients who may have chromosome abnormalities which could help in the localisation of susceptibility genes for psychiatric disorders. We suggest referral for specialist investigation and karyotyping, to a psychiatric genetics research group, of any patient with functional psychosis and one or more of the following: (a) a strong family history of functional psychosis; (b) mental retardation; (c) another disease known to be caused by a single gene; or (d) congenital abnormalities.
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Dissertations / Theses on the topic "Chromosome 21 – Aberrations chromosomiques"

1

Labbé, Marine. "Vers des modèles murins d'aneuploi͏̈die pour la région Hrmt111-Cstb homologue à la partie télomérique du chromosome 21 humain." Orléans, 2003. http://www.theses.fr/2003ORLE2028.

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La Trisomie 21 (T21) et la Monosomie 21 (M21) humaines entraînent de nombreuses perturbations du développement. L'étude de patients n'a pas permis de résoudre les relations génotype-phénotype nécessitant alors la création de modèles animaux. Il n'existe pas de modèle de M21 et les modèles murins de T21 actuels ne miment pas tous les phénotypes du syndrome. Nous avons donc décidé de créer de nouveaux modèles murins de T21 et de M21 en recombinant, par le système CRE-loxP, la région entre les gènes Cstb et Hrmt1l1 portée par le chromosome 10 absente dans les modèles. Des sites loxP ont ainsi été insérés au niveau de ces gènes en cellules ES afin d'obtenir la duplication et la délétion de la région in vitro grâce au système HPRT et in vivo par la stratégie TAMERE avec les lignées de souris dérivées des clones ES simples recombinants. Nous avons pour l'instant obtenu un mutant hypomorphe pour Hrmt1l1, un modèle de trisomie pour Cstb et un modèle de monosomie conditionnelle pour la région
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ROUGNY, YVES. "Aberrations chromosomiques : etude retrospective de 116 dossiers observes de 1979 a 1989 a la clinique obstetricale de l'hopital edouard herriot (lyon)." Lyon 1, 1992. http://www.theses.fr/1992LYO1M161.

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AUFFRET, PASCALE. "Malformations et tube neural et aberrations chromosomiques." Rennes 1, 1993. http://www.theses.fr/1993REN1M078.

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Bruyère, Hélène. "Chromosome 15 en anneau : syndrome clinique, détermination des points de cassure et revue de la littérature : à propos d'un cas." Saint-Etienne, 1995. http://www.theses.fr/1995STET6410.

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Riond, Joëlle. "Benzodiazepines peripheriques." Lyon, INSA, 1990. http://www.theses.fr/1990ISAL0094.

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Les benzodiazépines sont sédatives, anxiolytiques et anti-convulsantes. Leurs s'exercent par l'intermédiaire de récepteurs dans le système nerveux central. Cependant, certaines benzodiazépines se fixent aussi sur un récepteur pharmacologiquement distinct (BPBS), dans les organes périphériques. Celui-ci semble être impliqué dans l'immuno-modulation : nous avons observé un effet des benzodiazépines périphériques sur la prolifération lymphocytaire in vitro. Afin de caractériser le récepteur de ces ligands, nous l'avons purifié à partir de la l ignée cellulaire CHO (hamster), puis clivé, pour en déterminer partiellement la séquence. Un antisérum, obtenu par immunisation avec des peptides synthétiques ana) logues, a été utilisé pour étudier l'homologie entre le BPBS de CHO et celui de la lignée monocytaire humaine U937. A partir des séquences peptidiques du BPBS de CHO quatre sondes d'oligo-nucléotides ont été synthétisés pour isoler l'ADNc d'une banque U937. La région codante séquencée correspond à une protéine de 169 acides présentant plusieurs domaines trans-membranaires potentiels. Enfin, en utilisant l'ADNc isolé comme sonde, nous avons localisé le gène BPBS dans la bande 22q 13. 3 du génome humain
[Benzodiazepines are sedative, anxiolytic and anticonvulsant. They exert their effects through receptors in the central nervous system. However, some benzodiazepines also bind to a pharmacologically different receptor (BPBS) in peripheral organs. This one could be involved in immuno-modulation: we observed an effect of peripheral benzodiazepines on lymphocyte proliferation in vitro. To further characterize the receptor of these ligands, we purified it from the CHO cell line (hamster) and we cleaved it to determine a partial sequence. An antiserum directed against synthetic analogous peptides was used to study the homology cell line U937. Using the CHO BPBS peptide sequence, four oligonucleotide probes were synthesised to isolate the BPBS cDNA from a U937 library. The sequenced coding region corresponds to a 169 amino-acid protein with several potential trans-membrane domains. Finally, using the cDNA of the human BPBS as a probe, the BPBS gene was localized in the 22q 13. 3 band of the human genome. ]
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Dal, Cin Claude. "Un modèle pour l'étude des démences de type Alzheimer : la trisomie 21." Bordeaux 2, 1989. http://www.theses.fr/1989BOR25208.

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Nugoli, Mélanie. "Instabilité génétique des cancers du sein et étude à haute résolution des anomalies quantitatives du bras long du chromosome 1 (1q)." Montpellier 2, 2003. http://www.theses.fr/2003MON20116.

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Saut, Noëmie. "Délétions du chromosome Y et infertilité chez l'homme et chez la souris." Aix-Marseille 2, 2001. http://www.theses.fr/2001AIX20674.

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Magaud, Jean-Pierre. "Anomalies chromosomiques acquises et tumorogénèse lymphoïde B : à propos des lymphomes malins non-Hodgkiniens." Lyon 1, 1993. http://www.theses.fr/1993LYO1H108.

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Ferfouri, Fatma. "Anomalies génétiques et épigénétiques de l’ADN spermatique et infertilité masculine." Versailles-St Quentin en Yvelines, 2012. http://www.theses.fr/2012VERS0054.

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L’infertilité masculine parait augmenter depuis plusieurs décennies. Ses étiologies sont multiples, mais les causes génétiques et épigénétiques paraissent importantes. Nous avons dans cette thèse étudié différentes causes génétiques et épigénétiques d’infertilité en mettant en évidence les anomalies portées par les spermatozoïdes et parfois transmissibles au conceptus. Ce travail comporte trois parties, à savoir, tout d'abord, les infertilités associées à des anomalies du caryotype constitutionel en étudiant les conséquences pour le risque chromosomique porté par les spermatozoïdes avec le risque évalué sur tous les spermatozoïdes puis, les infertilités, à caryotype constitutionel normal, dont l’origine génique a parfois été démontrée et où la morphologie spermatique est altérée avec les spermatozoïdes macrocéphales, les spermatozoïdes globozoocéphales et les spermatozoïdes à larges ou petites vacuoles et enfin, les anomalies de la méthylation de l’ADN dans les différentes étiologies d’azoospermie. Ces approches ont un triple intérêt car elles permettent d'évaluer les risques pour le conceptus, de guider la prise en charge des patients et le choix des spermatozoïdes à injecter dans l’ovocyte. A plus long terme grâce à une compréhension des mécanismes en jeu, prévenir des infertilités et proposer de véritables solutions thérapeutiques
The male infertility seems to increase for several decades. Infertility etiologies are multiple, but the genetic and epigenetic causes are important. Here, we tried to study, the abnormalities carried by spermatozoa and sometimes transmissible in the conceptus. This work contains three parts, in a first time, the infertility linked with abnomalities of constitutionel karyotype by studying the consequences for the chromosomal risk with the risk estimated on all spermatozoa, in a second time, the infertility, with normal constitutionel karyotype, where the genetic origin was sometimes demonstrated and sperm morphology altered with macrocephalic sperm, Globozoospermia and spermatozoa with large or small vacuoles and in fine, DNA methylation abnormalities in various azoospermic aetiologies. These approaches have a triple interest because, it estimate the risks for conceptus and advice patients care, guide the choice of spermatozoa to be injected in the oocyte
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Books on the topic "Chromosome 21 – Aberrations chromosomiques"

1

1944-, Patterson David, and Epstein Charles J, eds. Molecular genetics of chromosome 21 and Down syndrome: Proceedings of the Sixth Annual National Down Syndrome Society Symposium, held in New York, NY, December 7-8, 1989. New York: Wiley-Liss, 1990.

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Catalog of chromosome aberrations in cancer. 3rd ed. New York: Liss, 1988.

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Felix, Mitelman, ed. Catalog of chromosome aberrations in cancer. 2nd ed. New York: Liss, 1985.

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1963-, Johansson Bertil, and Mertens Fredrik, eds. Catalog of chromosome aberrations in cancer. 5th ed. New York: Wiley-Liss, 1994.

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Catalog of chromosome aberrations in cancer. 4th ed. New York: Wiley-Liss, 1991.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 8th ed. New York: Wiley-Liss, 1997.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 5th ed. New York: Liss, 1989.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 6th ed. New York: Wiley-Liss, 1991.

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Chromosomal variation in man: A catalog of chromosomal variants and anomalies. 7th ed. New York: Wiley-Liss, 1994.

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10

The genome. New York, N.Y: VCH Publishers, 1990.

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You might also be interested in the extended bibliographies on the topic 'Chromosome 21 – Aberrations chromosomiques' for particular source types:
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