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Stephen Lamp - One of the best experts on this subject based on the ideXlab platform.
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trisomy 20q13 20qter in a girl with multiple congenital malformations and a recombinant Chromosome 20 inherited from a paternal inversion 20 p13q13 1 clinical report and review of the trisomy 20q phenotype
American Journal of Medical Genetics Part A, 2005Co-Authors: Dorothy K Grange, Jaime Garciaheras, Ramzi A Kilani, Stephen LampAbstract:We report on a patient with a rec(20)dup(20q) Chromosome Abnormality derived from a paternal Chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.
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trisomy 20q13 20qter in a girl with multiple congenital malformations and a recombinant Chromosome 20 inherited from a paternal inversion 20 p13q13 1 clinical report and review of the trisomy 20q phenotype
American Journal of Medical Genetics Part A, 2005Co-Authors: Dorothy K Grange, Jaime Garciaheras, Ramzi A Kilani, Stephen LampAbstract:We report on a patient with a rec(20)dup(20q) Chromosome Abnormality derived from a paternal Chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q. © 2005 Wiley-Liss, Inc.
Christa Fonatsch - One of the best experts on this subject based on the ideXlab platform.
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dic 9 20 a new recurrent Chromosome Abnormality in adult acute lymphoblastic leukemia
Genes Chromosomes and Cancer, 1995Co-Authors: Harald Rieder, Susanne Schnittger, Heinrich Bodenstein, Martin Schwonzen, B Wormann, Dinko Berkovic, Wolfdieter Ludwig, Dieter Hoelzer, Christa FonatschAbstract:Loss of Chromosome 20 and rearrangement of the short arm of Chromosome 9 were identified by banding analysis of three adult patients with acute lymphoblastic leukemia (ALL). The G-banding pattern suggested an identical deletion of 9p, but, also, an unbalanced translocation with Chromosome 20 was taken into consideration. Dual-color Chromosome painting with probes for Chromosomes 9 and 20 revealed the presence of material from Chromosome 20 at the short arm of the abnormal Chromosome 9 in all three cases. Centromeric alpha-satellite DNA of both Chromosome 9 and Chromosome 20 was demonstrated by fluorescence in situ hybridization and indicated the presence of a dicentric Chromosome. The hybridization of a YAC clone of the short arm of Chromosome 20 proved that the dicentric Chromosome contained the short arm of Chromosome 20, which had been suspected from the G-banding pattern. Thus, the rearrangement was interpreted as dic(9;20)(p11;q11.?1). Because this was the sole Chromosome Abnormality in two patients, dic(9;20) may be a primary Chromosome aberration in ALL. In one case, a 9q+ Chromosome derived from a Philadelphia (Ph) translocation was involved in the formation of the dicentric Chromosome. Immunophenotyping revealed CD10+ B-cell precursor ALL in all three cases. Whereas the two patients in whom dic(9;20) was the sole cytogenetically detectable change are in continuous complete remission for 10 and 45 months, respectively, the Ph+ patient relapsed with leukemia and died 8 months after diagnosis.
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dic 9 20 a new recurrent Chromosome Abnormality in adult acute lymphoblastic leukemia
Genes Chromosomes and Cancer, 1995Co-Authors: Harald Rieder, Susanne Schnittger, Heinrich Bodenstein, Martin Schwonzen, B Wormann, Dinko Berkovic, Wolfdieter Ludwig, Dieter Hoelzer, Christa FonatschAbstract:Loss of Chromosome 20 and rearrangement of the short arm of Chromosome 9 were identified by banding analysis of three adult patients with acute lymphoblastic leukemia (ALL). The G-banding pattern suggested and identical deletion of 9p, but, also, an unbalanced translocation with Chromosome 20 was taken into consideration. Dual-color Chromosome painting with probes for Chromosomes 9 and 20 revealed the presence of material from Chromosome 20 at the short arm of the abnormal Chromosome 9 in all three cases. Centromeric alpha-satellite DNA of both Chromosome 9 and Chromosome 20 was demonstrated by fluorescence in situ hybridization and indicated the presence of a dicentric Chromosome. The hybridization of a YAC clone of the short arm of Chromosome 20 proved that the dicentric Chromosome contained the short arm of Chromosome 20, which had been suspected from the G-banding pattern. Thus, the rearrangement was interpreted as dic(9; 20)(pl I;qi I . ? I). Because this was the sole Chromosome Abnormality in two patients, dic(9; 20) may be a primary Chromosome aberration in ALL. In one case, a 9q+ Chromosome derived from a Philadelphia (Ph) translocation was involved in the formation of the dicentric Chromosome. Immunophenotyping revealed CD 1o+ B-cell precursor ALL in all three cases. Whereas the two patients in whom dic(9; 20) was the sole cytogenetically detectable change are in continuous complete remission for 10 and 45 months, respectively, the Ph+ patient relapsed with leukemia and died 8 months after diagnosis. © 1995 Wiley-Liss, Inc.
Dorothy K Grange - One of the best experts on this subject based on the ideXlab platform.
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trisomy 20q13 20qter in a girl with multiple congenital malformations and a recombinant Chromosome 20 inherited from a paternal inversion 20 p13q13 1 clinical report and review of the trisomy 20q phenotype
American Journal of Medical Genetics Part A, 2005Co-Authors: Dorothy K Grange, Jaime Garciaheras, Ramzi A Kilani, Stephen LampAbstract:We report on a patient with a rec(20)dup(20q) Chromosome Abnormality derived from a paternal Chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q.
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trisomy 20q13 20qter in a girl with multiple congenital malformations and a recombinant Chromosome 20 inherited from a paternal inversion 20 p13q13 1 clinical report and review of the trisomy 20q phenotype
American Journal of Medical Genetics Part A, 2005Co-Authors: Dorothy K Grange, Jaime Garciaheras, Ramzi A Kilani, Stephen LampAbstract:We report on a patient with a rec(20)dup(20q) Chromosome Abnormality derived from a paternal Chromosome 20 inversion [inv(20)(p13q13.1)]. The rearrangement results in a duplication of 20q13.1 to 20qter and a deletion of 20p13 to 20pter. The patient is a girl with craniofacial features and multiple congenital malformations that overlap with the abnormalities previously described in trisomy 20q syndrome. To our knowledge this is the first report of a patient with rec(20)dup 20q. © 2005 Wiley-Liss, Inc.
Harald Rieder - One of the best experts on this subject based on the ideXlab platform.
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dic 9 20 a new recurrent Chromosome Abnormality in adult acute lymphoblastic leukemia
Genes Chromosomes and Cancer, 1995Co-Authors: Harald Rieder, Susanne Schnittger, Heinrich Bodenstein, Martin Schwonzen, B Wormann, Dinko Berkovic, Wolfdieter Ludwig, Dieter Hoelzer, Christa FonatschAbstract:Loss of Chromosome 20 and rearrangement of the short arm of Chromosome 9 were identified by banding analysis of three adult patients with acute lymphoblastic leukemia (ALL). The G-banding pattern suggested an identical deletion of 9p, but, also, an unbalanced translocation with Chromosome 20 was taken into consideration. Dual-color Chromosome painting with probes for Chromosomes 9 and 20 revealed the presence of material from Chromosome 20 at the short arm of the abnormal Chromosome 9 in all three cases. Centromeric alpha-satellite DNA of both Chromosome 9 and Chromosome 20 was demonstrated by fluorescence in situ hybridization and indicated the presence of a dicentric Chromosome. The hybridization of a YAC clone of the short arm of Chromosome 20 proved that the dicentric Chromosome contained the short arm of Chromosome 20, which had been suspected from the G-banding pattern. Thus, the rearrangement was interpreted as dic(9;20)(p11;q11.?1). Because this was the sole Chromosome Abnormality in two patients, dic(9;20) may be a primary Chromosome aberration in ALL. In one case, a 9q+ Chromosome derived from a Philadelphia (Ph) translocation was involved in the formation of the dicentric Chromosome. Immunophenotyping revealed CD10+ B-cell precursor ALL in all three cases. Whereas the two patients in whom dic(9;20) was the sole cytogenetically detectable change are in continuous complete remission for 10 and 45 months, respectively, the Ph+ patient relapsed with leukemia and died 8 months after diagnosis.
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dic 9 20 a new recurrent Chromosome Abnormality in adult acute lymphoblastic leukemia
Genes Chromosomes and Cancer, 1995Co-Authors: Harald Rieder, Susanne Schnittger, Heinrich Bodenstein, Martin Schwonzen, B Wormann, Dinko Berkovic, Wolfdieter Ludwig, Dieter Hoelzer, Christa FonatschAbstract:Loss of Chromosome 20 and rearrangement of the short arm of Chromosome 9 were identified by banding analysis of three adult patients with acute lymphoblastic leukemia (ALL). The G-banding pattern suggested and identical deletion of 9p, but, also, an unbalanced translocation with Chromosome 20 was taken into consideration. Dual-color Chromosome painting with probes for Chromosomes 9 and 20 revealed the presence of material from Chromosome 20 at the short arm of the abnormal Chromosome 9 in all three cases. Centromeric alpha-satellite DNA of both Chromosome 9 and Chromosome 20 was demonstrated by fluorescence in situ hybridization and indicated the presence of a dicentric Chromosome. The hybridization of a YAC clone of the short arm of Chromosome 20 proved that the dicentric Chromosome contained the short arm of Chromosome 20, which had been suspected from the G-banding pattern. Thus, the rearrangement was interpreted as dic(9; 20)(pl I;qi I . ? I). Because this was the sole Chromosome Abnormality in two patients, dic(9; 20) may be a primary Chromosome aberration in ALL. In one case, a 9q+ Chromosome derived from a Philadelphia (Ph) translocation was involved in the formation of the dicentric Chromosome. Immunophenotyping revealed CD 1o+ B-cell precursor ALL in all three cases. Whereas the two patients in whom dic(9; 20) was the sole cytogenetically detectable change are in continuous complete remission for 10 and 45 months, respectively, the Ph+ patient relapsed with leukemia and died 8 months after diagnosis. © 1995 Wiley-Liss, Inc.
Susanne Schnittger - One of the best experts on this subject based on the ideXlab platform.
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gain of an isoChromosome 5p a new recurrent Chromosome Abnormality in acute monoblastic leukemia
Cancer Genetics and Cytogenetics, 2001Co-Authors: Claudia Schoch, Susanne Schnittger, Sabina Bursch, Wolfgang Hiddemann, Wolfgang Kern, Torsten HaferlachAbstract:Abstract In acute myeloid leukemia (AML) close associations are known between cytomorphology and cytogenetics such as in AML M3/M3v showing a t(15;17) and in AML M4eo associated with inv(16)/t(16;16). In AML M5 a heterogenous cytogenetic pattern is observed. We describe the gain of an isoChromosome of the short arm of Chromosome 5 together with the gain of Chromosome 8 as the sole abnormalities in two cases of acute monoblastic leukemia. In a third case of acute monoblastic leukemia we also observed the gain of an isoChromosome 5p together with trisomy 8. This patient showed in addition an unbalanced translocation between the long arm of Chromosome 1 and the short arm of Chromosome 14 leading to a trisomy 1q. So far only two cases of AML with i(5)(p10) have been published. In no other hematological malignancy has an isoChromosome 5p been reported up to now. As an isoChromosome 5p can be misinterpreted as a deletion 5q, which occurs frequently in AML, fluorescence in situ hybridization with loci specific probes is a helpful method to detect this rare Abnormality.
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short communication gain of an isoChromosome 5p a new recurrent Chromosome Abnormality in acute monoblastic leukemia
2001Co-Authors: Claudia Schoch, Susanne Schnittger, Sabina Bursch, Wolfgang Hiddemann, Wolfgang Kern, Torsten HaferlachAbstract:In acute myeloid leukemia (AML) close associations are known between cytomorphology and cy- togenetics such as in AML M3/M3v showing a t(15;17) and in AML M4eo associated with inv(16)/ t(16;16). In AML M5 a heterogenous cytogenetic pattern is observed. We describe the gain of an isoChromosome of the short arm of Chromosome 5 together with the gain of Chromosome 8 as the sole abnormalities in two cases of acute monoblastic leukemia. In a third case of acute monoblastic leukemia we also observed the gain of an isoChromosome 5p together with trisomy 8. This patient showed in addition an unbalanced translocation between the long arm of Chromosome 1 and the short arm of Chromosome 14 leading to a trisomy 1q. So far only two cases of AML with i(5)(p10) have been published. In no other hematological malignancy has an isoChromosome 5p been re- ported up to now. As an isoChromosome 5p can be misinterpreted as a deletion 5q, which occurs frequently in AML, fluorescence in situ hybridization with loci specific probes is a helpful method to detect this rare Abnormality. © 2001 Elsevier Science Inc. All rights reserved.
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dic 9 20 a new recurrent Chromosome Abnormality in adult acute lymphoblastic leukemia
Genes Chromosomes and Cancer, 1995Co-Authors: Harald Rieder, Susanne Schnittger, Heinrich Bodenstein, Martin Schwonzen, B Wormann, Dinko Berkovic, Wolfdieter Ludwig, Dieter Hoelzer, Christa FonatschAbstract:Loss of Chromosome 20 and rearrangement of the short arm of Chromosome 9 were identified by banding analysis of three adult patients with acute lymphoblastic leukemia (ALL). The G-banding pattern suggested an identical deletion of 9p, but, also, an unbalanced translocation with Chromosome 20 was taken into consideration. Dual-color Chromosome painting with probes for Chromosomes 9 and 20 revealed the presence of material from Chromosome 20 at the short arm of the abnormal Chromosome 9 in all three cases. Centromeric alpha-satellite DNA of both Chromosome 9 and Chromosome 20 was demonstrated by fluorescence in situ hybridization and indicated the presence of a dicentric Chromosome. The hybridization of a YAC clone of the short arm of Chromosome 20 proved that the dicentric Chromosome contained the short arm of Chromosome 20, which had been suspected from the G-banding pattern. Thus, the rearrangement was interpreted as dic(9;20)(p11;q11.?1). Because this was the sole Chromosome Abnormality in two patients, dic(9;20) may be a primary Chromosome aberration in ALL. In one case, a 9q+ Chromosome derived from a Philadelphia (Ph) translocation was involved in the formation of the dicentric Chromosome. Immunophenotyping revealed CD10+ B-cell precursor ALL in all three cases. Whereas the two patients in whom dic(9;20) was the sole cytogenetically detectable change are in continuous complete remission for 10 and 45 months, respectively, the Ph+ patient relapsed with leukemia and died 8 months after diagnosis.
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dic 9 20 a new recurrent Chromosome Abnormality in adult acute lymphoblastic leukemia
Genes Chromosomes and Cancer, 1995Co-Authors: Harald Rieder, Susanne Schnittger, Heinrich Bodenstein, Martin Schwonzen, B Wormann, Dinko Berkovic, Wolfdieter Ludwig, Dieter Hoelzer, Christa FonatschAbstract:Loss of Chromosome 20 and rearrangement of the short arm of Chromosome 9 were identified by banding analysis of three adult patients with acute lymphoblastic leukemia (ALL). The G-banding pattern suggested and identical deletion of 9p, but, also, an unbalanced translocation with Chromosome 20 was taken into consideration. Dual-color Chromosome painting with probes for Chromosomes 9 and 20 revealed the presence of material from Chromosome 20 at the short arm of the abnormal Chromosome 9 in all three cases. Centromeric alpha-satellite DNA of both Chromosome 9 and Chromosome 20 was demonstrated by fluorescence in situ hybridization and indicated the presence of a dicentric Chromosome. The hybridization of a YAC clone of the short arm of Chromosome 20 proved that the dicentric Chromosome contained the short arm of Chromosome 20, which had been suspected from the G-banding pattern. Thus, the rearrangement was interpreted as dic(9; 20)(pl I;qi I . ? I). Because this was the sole Chromosome Abnormality in two patients, dic(9; 20) may be a primary Chromosome aberration in ALL. In one case, a 9q+ Chromosome derived from a Philadelphia (Ph) translocation was involved in the formation of the dicentric Chromosome. Immunophenotyping revealed CD 1o+ B-cell precursor ALL in all three cases. Whereas the two patients in whom dic(9; 20) was the sole cytogenetically detectable change are in continuous complete remission for 10 and 45 months, respectively, the Ph+ patient relapsed with leukemia and died 8 months after diagnosis. © 1995 Wiley-Liss, Inc.