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1.
Mol Cytogenet ; 2: 12, 2009 May 29.
Article in English | MEDLINE | ID: mdl-19480690

ABSTRACT

BACKGROUND: A new chimerism analysis based on automated interphase fluorescence in situ hybridization (FISH) evaluation was established to detect residual cells after allogene sex-mismatched bone marrow or blood stem-cell transplantation.Cells of 58 patients were characterized as disease-associated due to presence of a bcr/abl-gene-fusion or a trisomy 8 and/or a simultaneous hybridization of gonosome-specific centromeric probes. The automatic slide scanning platform Metafer with its module MetaCyte was used to analyse 3,000 cells per sample. RESULTS: Overall 454 assays of 58 patients were analyzed. 13 of 58 patients showed residual recipient cells at one stage of more than 4% and 12 of 58 showed residual recipient cells less than 4%, respectively. As to be expected, patients of the latter group were associated with a higher survival rate (48 vs. 34 month). In only two of seven patients with disease-marker positive residual cells between 0.1-1.3% a relapse was observed. Besides, disease-marker negative residual cells were found in two patients without relapse at a rate of 2.8% and 3.3%, respectively. CONCLUSION: The definite origin and meaning of disease-marker negative residual cells is still unclear. Overall, with the presented automatic chimerism analysis of interphase FISH slides, a sensitive method for detection of disease-marker positive residual cells is on hand.

2.
Prenat Diagn ; 27(8): 783-5, 2007 Aug.
Article in English | MEDLINE | ID: mdl-17546703

ABSTRACT

A prenatally ascertained case with a de novo small supernumerary marker chromosome (sSMC) derived from chromosome 1 is reported. Due to a fetal heart defect the parents decided in favour of an induced abortion. Postmortem, a molecular cytogenetic study on eleven formalin fixed, paraffin-embedded tissues of the fetus was performed, to further characterize the levels of mosaicism of the sSMC(1). sSMC presence varied between 13 and 62% within different tissues of sSMC carriers. This finding is something common in sSMC carriers and could explain why up to the present no clinical correlations for sSMC mosaicism and clinical outcome in the corresponding carriers could be established.


Subject(s)
Aneuploidy , Chromosomes, Human, Pair 1/genetics , Genetic Markers , Heterozygote , Mosaicism , Abortion, Eugenic , Adult , Fatal Outcome , Female , Humans , In Situ Hybridization, Fluorescence , Pregnancy , Prenatal Diagnosis , Spectral Karyotyping
3.
Fertil Steril ; 88(4): 969.e11-7, 2007 Oct.
Article in English | MEDLINE | ID: mdl-17451694

ABSTRACT

OBJECTIVE: To characterize the small supernumerary marker chromosomes (sSMCs) present in the female member of an infertile couple who has no further clinical symptoms. DESIGN: Case report. SETTING(S): Faculty of medicine and institute of human genetics and anthropology. PATIENT(S): A young, healthy, nonconsanguineous couple asked for genetic evaluation for infertility. INTERVENTION(S): Intracytoplasmic sperm injection, conventional and molecular cytogenetic analyses. MAIN OUTCOME MEASURE(S): We characterized the sSMCs present in a woman, who was a member of an infertile couple, by molecular cytogenetic techniques. RESULT(S): The G-banding technique showed that a marker chromosome was present in some of the examined cells describing the 47,XX,+mar[30]/46,XX[70] karyotype. Subsequently, using new fluorescence in situ hybridization (FISH) techniques, four distinguishable sSMCs (cryptic mosaicism), all derived from chromosome 9, were observed, including minute and ring chromosomes. This heterogeneity was impossible to detect by the conventional G-banding technique or conventional FISH technique that were used before the new FISH techniques (subcentromere-specific multicolor-FISH [subcenM-FISH]) and specific probe for the 9q12 band. In each metaphase with sSMCs, only one or two markers were observed. On the basis of the FISH analyses, the patient's karyotype was defined as 47,XX,+min(9)(:p12-->q12:)/47,XX,+min(9)(:p12-->q12::q12-->p12:)/47,XX,+r(9)(::p12-->q12::)/47,XX,+r(9)(::p12-->q12::p12-->q12::)x2/46,XX. CONCLUSION(S): The presence of sSMCs derived from chromosome 9 could influence the couple's infertility. The new subcenM-FISH techniques are very useful in the characterization of cryptic mosaicisms of marker chromosomes. Additionally, the hypothesis that the 9p12 chromosomal band is an euchromatic variant region without any phenotypic impact other than possible infertility is supported by this case study since the woman shows a normal phenotype.


Subject(s)
Aneuploidy , Chromosomes, Human, Pair 9/genetics , Infertility, Female/genetics , Mosaicism , Adult , Female , Genetic Markers , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Pregnancy , Sperm Injections, Intracytoplasmic
4.
Eur J Med Genet ; 50(2): 133-8, 2007.
Article in English | MEDLINE | ID: mdl-17174164

ABSTRACT

A 27-year-old man was referred for chromosome analysis due to infertility caused by azoospermia. Chromosome analysis by conventional karyotyping, multicolour FISH (M-FISH) and multicolour banding (MCB) analysis revealed an apparently balanced translocation between chromosomes 1, 3, 9 and 14 as well as an additional inverted insertion of 3q material with a total of eight breakpoints. Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely.


Subject(s)
Azoospermia/genetics , Chromosome Breakage , Chromosomes, Human, Pair 14 , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 3 , Chromosomes, Human, Pair 9 , Gene Rearrangement , Adult , Chromosome Inversion , Humans , In Situ Hybridization, Fluorescence , Infertility, Male/genetics , Karyotyping , Male , Meiosis , Phenotype , Recombination, Genetic
5.
Hum Mol Genet ; 15(15): 2376-91, 2006 Aug 01.
Article in English | MEDLINE | ID: mdl-16803849

ABSTRACT

Meiotic recombination is essential for the segregation of homologous chromosomes and the formation of normal haploid gametes. Little is known about patterns of meiotic recombination in human germ cells or the mechanisms that control these patterns. Documentation of the normal range of variability of recombination distribution over the genome among individuals is an essential prerequisite for understanding abnormal recombination patterns, which may be associated with non-disjunction and chromosome rearrangements. In this article, variation in recombination maps for individual chromosomes among 10 normal human males is examined for the first time. An immunocytogenetic approach allowed analysis of pachytene cells, using antibodies to detect the mature synaptonemal complex (SCP1/SCP3), the centromere (CREST) and sites of crossing over (MLH1). Individual bivalents were identified with centromere-specific multicolor fluorescence in situ hybridization. Significant heterogeneity in MLH1 focus frequency across donors was observed for larger chromosome arms (P<0.05, one-way ANOVA). Significant inter-donor variation in the overall crossover frequency per cell was also found (P<0.0001, one-way ANOVA). Furthermore, several chromosome arms showed significant differences in crossover distribution along the SCs among donors. Inter-individual variation in interference distances was observed for all chromosomes. The significance of altered recombination patterns among individuals and the role of interference are discussed.


Subject(s)
Carrier Proteins/genetics , Chromosome Mapping , Genetic Variation , Nuclear Proteins/genetics , Recombination, Genetic , Adaptor Proteins, Signal Transducing , Adult , Aged , Aged, 80 and over , Crossing Over, Genetic , Gene Frequency , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Male , Middle Aged , MutL Protein Homolog 1
7.
Am J Med Genet A ; 140(1): 46-51, 2006 Jan 01.
Article in English | MEDLINE | ID: mdl-16333826

ABSTRACT

Small supernumerary marker chromosomes (sSMC) in human are defined as additional centric derivatives smaller than chromosome 20. In the majority of the cases only one sSMC is present, leading to a more or less stable karyotype of 47,XX,+mar or 47,XY,+mar. In approximately 1.4% of sSMC cases two or up to seven markers of different chromosomal origin are reported. According to the literature a sSMC(6) was present in 33% of the patients with multiple sSMC while sSMC(6) are observed in <1% of cases with a single sSMC. Currently there is no explanation for this striking observation. Here we report on one more unique case with two sSMC, one derived from #5 and the other from #6. Using microdissection/reverse painting, subcentromere-specific multicolor FISH (subcenM-FISH) and multicolor banding (MCB), they could be described as min or r(6)(::p11.1 --> q11.1::) and r(5)(::p11.1 approximately 12 --> q10::q10 --> p11.1 approximately 12::), respectively. Reversed array CGH using the DNA of the microdissected sSMC as probe confirmed the FISH results and enabled the rapid mapping of the breakpoints.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 6/genetics , Base Sequence , Child , Chromosome Banding , Chromosome Disorders/genetics , Chromosome Disorders/pathology , Chromosome Painting , Female , Genome, Human , Humans , Karyotyping , Molecular Sequence Data , Nucleic Acid Hybridization/methods
8.
Eur J Med Genet ; 48(3): 319-27, 2005.
Article in English | MEDLINE | ID: mdl-16179227

ABSTRACT

A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is only the second report of a marker with a neocentromere 12pter and the molecular fine mapping of the duplicated region further refines the 12p region defining the Pallister-Killian syndrome phenotype. In addition, we show the feasibility of using microdissected chromosomes or chromosomal fragments to molecularly map the chromosomal breakpoints on array CGH. This technology may aid in the identification of chromosomal translocation breakpoints.


Subject(s)
Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Aneuploidy , Chromosomes, Human, Pair 12/genetics , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Child , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/genetics , Female , Genetic Markers/genetics , Humans , In Situ Hybridization, Fluorescence , Oligonucleotide Array Sequence Analysis , Phenotype , Syndrome
9.
Hum Mol Genet ; 14(20): 3013-8, 2005 Oct 15.
Article in English | MEDLINE | ID: mdl-16155114

ABSTRACT

During meiosis, homologous chromosome pairing is essential for subsequent meiotic recombination (crossover). Discontinuous chromosome regions (gaps) or unsynapsed chromosome regions (splits) in the synaptonemal complex (SC) indicate anomalies in chromosome synapsis. Recently developed immunofluorescence techniques (using antibodies against SC proteins and the crossover-associated MLH1 protein) were combined with fluorescence in situ hybridization (using centromere-specific DNA probes) to identify bivalents with gaps/splits and to examine the effect of gaps/splits on meiotic recombination patterns during the pachytene stage of meiotic prophase from three normal human males. Gaps were observed only in the heterochromatic regions of chromosomes 9 and 1, with 9q gaps accounting for 90% of these events. Most splits were also found in chromosomes 9 and 1, with 58% of splits occurring on 9q. Gaps and splits significantly altered the distribution of MLH1 foci on the SC. On gapped SC 9q, the frequency of MLH1 foci was decreased compared with controls, and single 9q crossovers tended toward a more distal distribution. Furthermore, the larger the gap the more distal the location of the MLH1 focus closest to the q arm's telomere. MLH1 foci on split SC 9 had distributions similar to those of gapped SC 9; however, splits did not change the frequencies of MLH1 foci on SC 9. This is the first demonstration that gaps and splits have an effect on meiotic recombination in humans.


Subject(s)
Chromosomes, Human/genetics , Meiosis/genetics , Recombination, Genetic/genetics , Adaptor Proteins, Signal Transducing , Aged , Aged, 80 and over , Carrier Proteins/genetics , Centromere/genetics , Chromosome Pairing/genetics , Chromosome Pairing/physiology , Chromosomes, Human, Pair 1/metabolism , Chromosomes, Human, Pair 9/metabolism , Humans , Male , Middle Aged , MutL Protein Homolog 1 , Nuclear Proteins/genetics , Spermatocytes/cytology , Synaptonemal Complex/physiology
10.
Clin Dysmorphol ; 14(4): 169-175, 2005 Oct.
Article in English | MEDLINE | ID: mdl-16155417

ABSTRACT

We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][::p11.1-->q21.1::]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.


Subject(s)
Chromosomes, Human, Pair 1/genetics , Ring Chromosomes , Chromosome Banding , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Karyotyping , Male
11.
Eur J Med Genet ; 48(2): 175-81, 2005.
Article in English | MEDLINE | ID: mdl-16053909

ABSTRACT

Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that can result either from a 15q11-q13 deletion, paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. A small cytogenetic subset of PWS and AS patients are carriers of a so-called small supernumerary marker chromosome (sSMC). Here, we report on an previously unreported PWS case with a karyotype 47,XY,+min(15)(pter->q11.1:) plus maternal heterodisomic UPD 15. A review of the literature revealed, that for both, PWS and AS patients, cases with (1) a sSMC plus microdeletion of the PWS/AS critical region, (2) inv dup(15) plus uniparental disomy (UPD) 15 and (3) cases without exclusion of a microdeletion an UBE3A mutation or UPD are described. The present case as well as the review of similar cases provides further evidence for the necessity to test UPD in prenatal cases with a de novo sSMC and in postnatal cases with otherwise unexplainable clinical phenotype.


Subject(s)
Chromosomes, Human, Pair 15/genetics , Prader-Willi Syndrome/genetics , Uniparental Disomy , Angelman Syndrome/genetics , Chromosome Deletion , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Karyotyping , Male , Mutation , Phenotype , Ubiquitin-Protein Ligases/genetics
12.
J Urol ; 174(2): 731-5, 2005 Aug.
Article in English | MEDLINE | ID: mdl-16006966

ABSTRACT

PURPOSE: We developed a rapid interphase fluorescence in situ hybridization (FISH) test to differentiate renal cell carcinoma (RCC) based on known genetic alterations and verified the suitability of this test for practical use. MATERIALS AND METHODS: We composed 2 FISH test sets using 6 centromere specific and 2 region specific DNA probes of human chromosomes. Test set 1 contained centromeric probes for chromosomes 1, 2, 6 and 9, as labeled by 4 fluorescence dyes. For test set 2 we chose 3p24pter and 3p13p14 regions, and centromeric probes of chromosomes 7 and 17. Interphase nuclei of tumor specimens were prepared from 50 mum frozen tissue sections and fixed on slides. The 2 sets were hybridized simultaneously side by side on the same slide. RESULTS: Seven clear cell carcinomas, 8 papillary carcinomas, 7 chromophobe RCCs and 3 oncocytomas were analyzed by interphase FISH. Results were compared with comparative genomic hybridization findings and pathological reports. Genetic alterations were detected in 22 of 25 analyzed tumors by FISH. FISH findings absolutely correlated with comparative genomic hybridization results. Of the analyzed carcinomas 22 could be identified correctly. In 3 tumors the histological subtypes were revised. CONCLUSIONS: The results of this study demonstrate that the performed test set allows the accurate identification of RCC in 1 hybridization step. Therefore, FISH represents an effective method for the rapid classification of RCC.


Subject(s)
Carcinoma, Renal Cell/diagnosis , In Situ Hybridization, Fluorescence/methods , Kidney Neoplasms/diagnosis , Humans , Sensitivity and Specificity
13.
J Histochem Cytochem ; 53(3): 359-60, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15750019

ABSTRACT

In three cases, banding analysis revealed a normal karyotype except for an enlarged short arm of one chromosome 13 or 15. To clarify whether this enlargement was due to a heteromorphism or to a cryptic chromosomal trisomy, so-called cenM-FISH probe sets containing a microdissection-derived probe specific for the acrocentric human p-arms were applied. The results enabled us to confirm in one case and to exclude in two cases that the enlargement on the suspect chromosome was due to a p-arm polymorphism. M-FISH and/or microdissection were used to resolve the nature of the rearrangements, i.e., partial trisomies 6 and 19.


Subject(s)
Chromosome Aberrations , Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 15 , Trisomy , Abnormalities, Multiple/genetics , Adult , Chromosome Banding , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Karyotyping , Male , Translocation, Genetic , Ultrasonography, Prenatal
14.
J Histochem Cytochem ; 53(3): 367-70, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15750022

ABSTRACT

Here we report a prenatally detected small supernumerary marker chromosome (sSMC) derived from chromosome 2 as demonstrated by cenM-FISH (centromere-specific multicolor fluorescence in situ hybridization). By application of a recently described subcentromere-specific probe set (subcenM-FISH) for chromosome 2, the presence of a small partial trisomy due to a karyotype 47,XX,+r(2)(::p11.1->q11.2::) was demonstrated. Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested.


Subject(s)
Chromosomes, Human, Pair 2 , Trisomy , Female , Fetal Diseases/diagnosis , Fetal Diseases/genetics , Genetic Markers , Genotype , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Phenotype , Pregnancy , Uniparental Disomy
16.
Int J Mol Med ; 14(6): 977-9, 2004 Dec.
Article in English | MEDLINE | ID: mdl-15547662

ABSTRACT

In this report, we describe two unrelated patients with mental retardation and brachydactyly E classified as patients suffering from Albright hereditary osteodystrophy-like (AHO-like) syndrome. Fluorescence in situ hybridization (FISH) analysis using 8 different subtelomeric probes in 2q36-37 proved that the patients had subtelomeric 2qter deletions of similar size. The recently proposed candidate gene glypican 1 (GPC1) is deleted in both reported patients.


Subject(s)
Chromosomes, Human, Pair 2/genetics , Fibrous Dysplasia, Polyostotic/genetics , Gene Deletion , Heparan Sulfate Proteoglycans/genetics , Adult , Child , Female , Fibrous Dysplasia, Polyostotic/pathology , Humans , In Situ Hybridization, Fluorescence , Male
17.
Oncol Rep ; 11(6): 1215-8, 2004 Jun.
Article in English | MEDLINE | ID: mdl-15138558

ABSTRACT

It has been demonstrated that 24-color FISH is not sufficient to understand completely the behaviour of chromosomal markers, especially in solid tumors. In the present study we show the usefulness of molecular cyto-genetic techniques, such as multicolour banding (MCB) and centromere-specific multicolour-FISH (cenM-FISH) performed on the colorectal cancer cell line SW480. Applying these approaches previously described chromosomal breakpoints could be redefined and six 'marker chromosomes' could be thoroughly characterised. Additionally, the cenM-FISH technique identified three stable dicentric chromosomes which have never been described before in SW480. In conclusion, here we present the first comprehensive characterisation of the complex karyotype of the colorectal cancer cell line SW480.


Subject(s)
Chromosome Breakage , Colorectal Neoplasms/genetics , In Situ Hybridization, Fluorescence/methods , Humans , Karyotyping , Tumor Cells, Cultured
18.
Am J Hum Genet ; 74(3): 521-31, 2004 Mar.
Article in English | MEDLINE | ID: mdl-14973780

ABSTRACT

Meiotic recombination is essential for the segregation of chromosomes and the formation of normal haploid gametes, yet we know very little about the meiotic process in humans. We present the first (to our knowledge) recombination maps for every autosome in the human male obtained by new immunofluorescence techniques followed by centromere-specific multicolor fluorescence in situ hybridization in human spermatocytes. The mean frequency of autosomal recombination foci was 49.8+/-4.3, corresponding to a genetic length of 2,490 cM. All autosomal bivalents had at least one recombination focus. In contrast, the XY bivalent had a recombination focus in 73% of nuclei, suggesting that a relatively large proportion of spermatocytes may be at risk for nondisjunction of the XY bivalent or elimination by meiotic arrest. There was a very strong correlation between mean length of the synaptonemal complex (SC) and the number of recombination foci per SC. Each bivalent presented a distinct distribution of recombination foci, but in general, foci were near the distal parts of the chromosome, with repression of foci near the centromere. The position of recombination foci demonstrated positive interference, but, in rare instances, foci were very close to one another.


Subject(s)
Chromosome Mapping , Chromosomes, Human , Recombination, Genetic , Spermatocytes/cytology , Fluorescent Antibody Technique , Humans , In Situ Hybridization, Fluorescence , Male , Testis/cytology
19.
Oncol Rep ; 11(1): 89-92, 2004 Jan.
Article in English | MEDLINE | ID: mdl-14654908

ABSTRACT

We report on a 72-year-old patient with a clinically diagnosed plasmocytoma which developed to a plasma cell leukemia (PCL) with so far unrecorded complex translocations. As GTG-banding was not able to resolve all karyotypic changes, multiplex-fluorescence in situ hybridization (M-FISH) in combination with microdissection based comparative genomic hybridization (micro-CGH) and multicolor banding (MCB) have been done. Using these molecular cytogenetic approaches the karyotype of the PCL case can be described as: 51,XY,-1,-1,+3,+der(5)t(5;11;1)(5pter right curved arrow 5q13-q14::11q24 right curved arrow 11q25::1q12 right curved arrow 1qter),+7 or +der(7)t(7;1)(7qter right curved arrow 7p15::1p31.1 right curved arrow 1pter),+8,+der(9)t(1;9)(1qter right curved arrow 1q12::9q12 right curved arrow 9pter),der(11)t(1;11;1)(1pter right curved arrow 1p31.1::11p15.5 right curved arrow 11q25::1q12 right curved arrow 1qter),-13,der(14)t(X;14)(Xqter right curved arrow Xq21.3::14pter right curved arrow 14qter),+15,+18,der(19)t(9;19)(9qter right curved arrow 9q12::19q11 right curved arrow 19pter),+i(19)(q10). The case shows one of the most complex karyotypic rearrangements ever described in PCL and indicates two additional chromosomal regions which may contain genes of interest for the development of this hematological disorder: loss of 1p10-p31.1 material and gain of Xq21.3-qter.


Subject(s)
Leukemia, Plasma Cell/genetics , Translocation, Genetic , Aged , Chromosome Banding , Chromosome Painting , Chromosomes, Human, Pair 1/genetics , Chromosomes, Human, Pair 14/genetics , Chromosomes, Human, Pair 7/genetics , Chromosomes, Human, Pair 9/genetics , Chromosomes, Human, X/genetics , Humans , Karyotyping , Leukemia, Plasma Cell/pathology , Male
20.
Oncol Rep ; 10(6): 1789-92, 2003.
Article in English | MEDLINE | ID: mdl-14534697

ABSTRACT

We report on the cytogenetic findings from a patient with a de novo TNF-receptor-associated periodic syndrome (TRAPS), who showed first symptoms at the age of four months. Thus, he obtained a long-term therapy with cortisone, chlorambucile, methotrexate and cyclophosphamide. At the age of 14 he developed a secondary acute myeloblastic leukemia. Highly complex chromosomal rearrangements were detected after banding analysis. The exact definition of karyotype and the involved breakpoints could only be resolved after application of sophisticated multicolor-FISH techniques: 44,XY,-5,der(6)t(6;7)(6pter right curved arrow 6q12::7p22.2 right curved arrow 7pter or 7pter right curved arrow 7p22.2), dic(7;19)t(6;19;6;7;19;7;19)(19qter right curved arrow 19q12::7p13 right curved arrow 7p11.1::19q12 right curved arrow 19p12 or 19p12 right curved arrow 19q12::7p11.1 right curved arrow 7q21.3::6q12 right curved arrow 6q26::19p13.3 right curved arrow 19p12::6q26-6qter),dic(12;13)(13qter right curved arrow 13p11.2::12p13.1 right curved arrow 12qter),ace(12;13)(13pter right curved arrow 13p11.2::12p13.1 right curved arrow 12pter), -19. The simultaneous presence of two dicentric chromosomes has not been reported previously and is striking, as such chromosomes are suggested to be instable. However, such chromosomes are observed frequently after chemo- or radiotherapy and in secondary, i.e. therapy related AML (tAML). Thus, AML in this case may result from a long-term therapy of TRAPS with methotrexate, cyclophosphamide, chlorambucile and cortisone.


Subject(s)
Arthritis, Juvenile/drug therapy , Chromosome Aberrations , Leukemia, Myeloid, Acute/genetics , Receptors, Tumor Necrosis Factor/metabolism , Adolescent , Arthritis, Juvenile/metabolism , Chromosome Banding , Cytogenetics , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Leukemia, Myeloid, Acute/chemically induced , Leukemia, Myeloid, Acute/pathology , Male , Neoplasm Metastasis
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