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Michael J Gambello - One of the best experts on this subject based on the ideXlab platform.
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a patient with isoChromosome 18q radial thumb aplasia thrombocytopenia and an unbalanced 10 18 Chromosome translocation
American Journal of Medical Genetics Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated. © 2005 Wiley-Liss, Inc.
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A patient with isoChromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 Chromosome translocation.
American journal of medical genetics. Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated.
Qing Kenneth Wang - One of the best experts on this subject based on the ideXlab platform.
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identification and molecular characterization of a de novo supernumerary ring Chromosome 18 in a patient with klippel trenaunay syndrome
Annals of Human Genetics, 2004Co-Authors: Anil A Timur, Azita Sadgephour, Michael D Graf, Stuart Schwartz, Eric D Libby, David J Driscoll, Qing Kenneth WangAbstract:Summary Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring Chromosome in a patient with mild mental retardation, long tapering fingers, elongated, thin feet and Klippel-Trenaunay syndrome (KTS). The ring marker Chromosome was found to be mosaic, present in 24% of cells, and was later shown to be derived from Chromosome 18, r(18). Fluorescence in situ hybridization (FISH) was used to define the breakpoints involved in the formation of r(18). The Chromosome 18p breakpoint was localized between the markers WI-9619 and D18S1150, which is less than 10 cM to the centromere. The 18q breakpoint was localized between the centromere and BAC clone 666n19, which is a region of less than 40 kb. These data suggest that the r(18) mostly originated from 18p, with an estimated size of less than 10 cM. These studies identify and characterize a new marker Chromosome 18, provide insights into the understanding of the relationships between the clinical phenotypes and marker Chromosomes, and establish a framework for finding a potential vascular and/or overgrowth gene located on Chromosome 18.
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Identification and Molecular Characterization of a de novo Supernumerary Ring Chromosome 18 in a Patient with Klippel‐Trenaunay Syndrome
Annals of Human Genetics, 2004Co-Authors: Anil A Timur, Azita Sadgephour, Michael D Graf, Stuart Schwartz, Eric D Libby, David J Driscoll, Qing Kenneth WangAbstract:Summary Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring Chromosome in a patient with mild mental retardation, long tapering fingers, elongated, thin feet and Klippel-Trenaunay syndrome (KTS). The ring marker Chromosome was found to be mosaic, present in 24% of cells, and was later shown to be derived from Chromosome 18, r(18). Fluorescence in situ hybridization (FISH) was used to define the breakpoints involved in the formation of r(18). The Chromosome 18p breakpoint was localized between the markers WI-9619 and D18S1150, which is less than 10 cM to the centromere. The 18q breakpoint was localized between the centromere and BAC clone 666n19, which is a region of less than 40 kb. These data suggest that the r(18) mostly originated from 18p, with an estimated size of less than 10 cM. These studies identify and characterize a new marker Chromosome 18, provide insights into the understanding of the relationships between the clinical phenotypes and marker Chromosomes, and establish a framework for finding a potential vascular and/or overgrowth gene located on Chromosome 18.
Trilochan Sahoo - One of the best experts on this subject based on the ideXlab platform.
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a patient with isoChromosome 18q radial thumb aplasia thrombocytopenia and an unbalanced 10 18 Chromosome translocation
American Journal of Medical Genetics Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated. © 2005 Wiley-Liss, Inc.
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A patient with isoChromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 Chromosome translocation.
American journal of medical genetics. Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated.
Anil A Timur - One of the best experts on this subject based on the ideXlab platform.
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identification and molecular characterization of a de novo supernumerary ring Chromosome 18 in a patient with klippel trenaunay syndrome
Annals of Human Genetics, 2004Co-Authors: Anil A Timur, Azita Sadgephour, Michael D Graf, Stuart Schwartz, Eric D Libby, David J Driscoll, Qing Kenneth WangAbstract:Summary Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring Chromosome in a patient with mild mental retardation, long tapering fingers, elongated, thin feet and Klippel-Trenaunay syndrome (KTS). The ring marker Chromosome was found to be mosaic, present in 24% of cells, and was later shown to be derived from Chromosome 18, r(18). Fluorescence in situ hybridization (FISH) was used to define the breakpoints involved in the formation of r(18). The Chromosome 18p breakpoint was localized between the markers WI-9619 and D18S1150, which is less than 10 cM to the centromere. The 18q breakpoint was localized between the centromere and BAC clone 666n19, which is a region of less than 40 kb. These data suggest that the r(18) mostly originated from 18p, with an estimated size of less than 10 cM. These studies identify and characterize a new marker Chromosome 18, provide insights into the understanding of the relationships between the clinical phenotypes and marker Chromosomes, and establish a framework for finding a potential vascular and/or overgrowth gene located on Chromosome 18.
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Identification and Molecular Characterization of a de novo Supernumerary Ring Chromosome 18 in a Patient with Klippel‐Trenaunay Syndrome
Annals of Human Genetics, 2004Co-Authors: Anil A Timur, Azita Sadgephour, Michael D Graf, Stuart Schwartz, Eric D Libby, David J Driscoll, Qing Kenneth WangAbstract:Summary Klippel-Trenaunay syndrome (KTS) is a congenital vascular disorder comprised of capillary, venous and lymphatic malformations associated with overgrowth of the affected tissues. In this study, we report the identification of a de novo supernumerary ring Chromosome in a patient with mild mental retardation, long tapering fingers, elongated, thin feet and Klippel-Trenaunay syndrome (KTS). The ring marker Chromosome was found to be mosaic, present in 24% of cells, and was later shown to be derived from Chromosome 18, r(18). Fluorescence in situ hybridization (FISH) was used to define the breakpoints involved in the formation of r(18). The Chromosome 18p breakpoint was localized between the markers WI-9619 and D18S1150, which is less than 10 cM to the centromere. The 18q breakpoint was localized between the centromere and BAC clone 666n19, which is a region of less than 40 kb. These data suggest that the r(18) mostly originated from 18p, with an estimated size of less than 10 cM. These studies identify and characterize a new marker Chromosome 18, provide insights into the understanding of the relationships between the clinical phenotypes and marker Chromosomes, and establish a framework for finding a potential vascular and/or overgrowth gene located on Chromosome 18.
Carlos A. Bacino - One of the best experts on this subject based on the ideXlab platform.
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a patient with isoChromosome 18q radial thumb aplasia thrombocytopenia and an unbalanced 10 18 Chromosome translocation
American Journal of Medical Genetics Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated. © 2005 Wiley-Liss, Inc.
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A patient with isoChromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 Chromosome translocation.
American journal of medical genetics. Part A, 2005Co-Authors: Trilochan Sahoo, Rizwan Naeem, Kim Pham, Sou Chheng, Sarah T Noblin, Carlos A. Bacino, Michael J GambelloAbstract:We report on the clinical and cytogenetic findings in a newborn with a de novo isoChromosome 18q. Radial/thumb aplasia and thrombocytopenia were significant features in addition to multiple congenital anomalies. Comparison with reported cases suggests that the genes for such features are located on the 18q arm. An additional finding of a non-reciprocal translocation between Chromosome 18p telomere and Chromosome 10q telomere was also observed in a majority of cells examined. This additional rearrangement likely has minimal phenotypic consequences, but does raise the possibility that cryptic translocations of telomeric ends of the deleted arm in isoChromosome cases may be more common than appreciated.