The Experts below are selected from a list of 1083 Experts worldwide ranked by ideXlab platform
Gesa Schwanitz - One of the best experts on this subject based on the ideXlab platform.
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mosaic Tetrasomy 14pter q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q
American Journal of Medical Genetics Part A, 2005Co-Authors: Thomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, Christiane Heidrichkaul, Ruth Raff, Ingeborg Heil, Herdit Schuler, Eckhard Korsch, E Meyer, Gesa SchwanitzAbstract:Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic Tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was detectable in nearly 25% of lymphocytes as well as in cells from buccal mucosa. Detailed fluorescence in situ hybridization (FISH) analyses allowed the characterization of the marker to entirely consist of proximal 14q material and to be symmetric. The pattern of clinical features in our patient only slightly correspond to that of patients with trisomy of proximal 14q, but further cases are needed to define whether Tetrasomy of proximal 14q is a separate entity. © 2005 Wiley-Liss, Inc.
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mosaic Tetrasomy 14pter q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q
American Journal of Medical Genetics Part A, 2005Co-Authors: Thomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, Christiane Heidrichkaul, Ruth Raff, Ingeborg Heil, Eckhard Korsch, E Meyer, Herdit M Schuler, Gesa SchwanitzAbstract:Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic Tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was detectable in nearly 25% of lymphocytes as well as in cells from buccal mucosa. Detailed fluorescence in situ hybridization (FISH) analyses allowed the characterization of the marker to entirely consist of proximal 14q material and to be symmetric. The pattern of clinical features in our patient only slightly correspond to that of patients with trisomy of proximal 14q, but further cases are needed to define whether Tetrasomy of proximal 14q is a separate entity.
David J Amor - One of the best experts on this subject based on the ideXlab platform.
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pallister killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p
American Journal of Medical Genetics Part A, 2009Co-Authors: Alison Yeung, David Francis, Olivia Giouzeppos, David J AmorAbstract:Pallister–Killian syndrome (PKS) is a rare but distinctive chromosomal syndrome distinguished by severe intellectual impairment, characteristic facial features, and variable structural anomalies. The characteristic cytogenetic abnormality in PKS is a supernumerary isochromosome 12p that confers mosaic Tetrasomy. We describe a female child with PKS in whom Tetrasomy 12p resulted from a supernumerary ring chromosome containing two copies of chromosome 12cen ! p13, a novel cytogenetic finding. The ring chromosome exhibited tissuelimited mosaicism, being absent in blood but detected in 38% of buccal mucosa cells and 41% of skin fibroblasts. Our patient demonstrated the typical dysmorphic characteristics of PKS, but her development was relatively advanced in comparison to children with isochromosome PKS. Her milder developmental phenotype may be attributable to differences in the mosaic distribution or the genomic content of the ring chromosome compared to mosaic isochromosome 12p. 2009 Wiley-Liss, Inc.
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Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.
American journal of medical genetics. Part A, 2009Co-Authors: Alison Yeung, David Francis, Olivia Giouzeppos, David J AmorAbstract:Pallister-Killian syndrome (PKS) is a rare but distinctive chromosomal syndrome distinguished by severe intellectual impairment, characteristic facial features, and variable structural anomalies. The characteristic cytogenetic abnormality in PKS is a supernumerary isochromosome 12p that confers mosaic Tetrasomy. We describe a female child with PKS in whom Tetrasomy 12p resulted from a supernumerary ring chromosome containing two copies of chromosome 12cen --> p13, a novel cytogenetic finding. The ring chromosome exhibited tissue-limited mosaicism, being absent in blood but detected in 38% of buccal mucosa cells and 41% of skin fibroblasts. Our patient demonstrated the typical dysmorphic characteristics of PKS, but her development was relatively advanced in comparison to children with isochromosome PKS. Her milder developmental phenotype may be attributable to differences in the mosaic distribution or the genomic content of the ring chromosome compared to mosaic isochromosome 12p.
Thomas Eggermann - One of the best experts on this subject based on the ideXlab platform.
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mosaic Tetrasomy 14pter q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q
American Journal of Medical Genetics Part A, 2005Co-Authors: Thomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, Christiane Heidrichkaul, Ruth Raff, Ingeborg Heil, Herdit Schuler, Eckhard Korsch, E Meyer, Gesa SchwanitzAbstract:Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic Tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was detectable in nearly 25% of lymphocytes as well as in cells from buccal mucosa. Detailed fluorescence in situ hybridization (FISH) analyses allowed the characterization of the marker to entirely consist of proximal 14q material and to be symmetric. The pattern of clinical features in our patient only slightly correspond to that of patients with trisomy of proximal 14q, but further cases are needed to define whether Tetrasomy of proximal 14q is a separate entity. © 2005 Wiley-Liss, Inc.
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mosaic Tetrasomy 14pter q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q
American Journal of Medical Genetics Part A, 2005Co-Authors: Thomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, Christiane Heidrichkaul, Ruth Raff, Ingeborg Heil, Eckhard Korsch, E Meyer, Herdit M Schuler, Gesa SchwanitzAbstract:Tetrasomy of proximal 14q is an extremely rare condition and has never been reported to be associated with survival. We here report on the first case of mosaic Tetrasomy of 14pter-q13 due to a de-novo supernumerary pseudoisodicentric chromosome in a 2-year-old boy with multiple dysmorphisms and malformations. The marker was detectable in nearly 25% of lymphocytes as well as in cells from buccal mucosa. Detailed fluorescence in situ hybridization (FISH) analyses allowed the characterization of the marker to entirely consist of proximal 14q material and to be symmetric. The pattern of clinical features in our patient only slightly correspond to that of patients with trisomy of proximal 14q, but further cases are needed to define whether Tetrasomy of proximal 14q is a separate entity.
Barbara Morash - One of the best experts on this subject based on the ideXlab platform.
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mosaic Tetrasomy 5p resulting from an isochromosome 5p marker chromosome case report and review of literature
American Journal of Medical Genetics Part A, 2012Co-Authors: Joann K Brock, Sarah Dyack, Mark Ludman, Nadine Dumas, Michele Gaudet, Barbara MorashAbstract:We report on the fifth case, and oldest reported patient, of an individual affected with mosaic Tetrasomy 5p resulting from an isochromosome 5p [i(5)(p10)] marker chromosome. A syndrome of mosaic Tetrasomy 5p is defined, and includes the following features seen in the reported cases: developmental delay, seizures, ventriculomegaly (other brain anomalies), small stature/growth delay and mosaic pigmentary skin changes. Other findings include various dysmorphic facial features as well as hand and foot anomalies. This syndrome is likely more common than suggested in the literature, as the clinical presentation can be variable, and the chromosome anomaly is unlikely to be found on routine karyotype of peripheral blood lymphocytes. The i(5)(p10) marker chromosome is found only as a mosaic anomaly, with levels ranging from 0% to 10% in cultured lymphocytes to 12–85% in cultured skin fibroblasts. Microarray analysis performed on unstimulated lymphocytes from the patient in this report did not detect any evidence of the chromosome abnormality, indicating that this methodology may not be useful as a diagnostic tool in this disorder. Diagnosis of the mosaic Tetrasomy 5p syndrome will rely on good clinical assessment, and appropriate cytogenetic studies, including analysis of skin fibroblasts. A child with unexplained developmental delay, seizures, hypotonia, and ventriculomegaly with or without dysmorphic features should be assessed carefully for pigmentary changes of the skin. If a diagnosis of mosaic 5p Tetrasomy is suspected, karyotype of cultured fibroblasts in addition to routine cytogenetic analysis, to look for this marker chromosome is warranted. © 2012 Wiley Periodicals, Inc.
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mosaic Tetrasomy 5p resulting from an isochromosome 5p marker chromosome case report and review of literature
American Journal of Medical Genetics Part A, 2012Co-Authors: Joann K Brock, Sarah Dyack, Mark Ludman, Nadine Dumas, Michele Gaudet, Barbara MorashAbstract:We report on the fifth case, and oldest reported patient, of an individual affected with mosaic Tetrasomy 5p resulting from an isochromosome 5p [i(5)(p10)] marker chromosome. A syndrome of mosaic Tetrasomy 5p is defined, and includes the following features seen in the reported cases: developmental delay, seizures, ventriculomegaly (other brain anomalies), small stature/growth delay and mosaic pigmentary skin changes. Other findings include various dysmorphic facial features as well as hand and foot anomalies. This syndrome is likely more common than suggested in the literature, as the clinical presentation can be variable, and the chromosome anomaly is unlikely to be found on routine karyotype of peripheral blood lymphocytes. The i(5)(p10) marker chromosome is found only as a mosaic anomaly, with levels ranging from 0% to 10% in cultured lymphocytes to 12-85% in cultured skin fibroblasts. Microarray analysis performed on unstimulated lymphocytes from the patient in this report did not detect any evidence of the chromosome abnormality, indicating that this methodology may not be useful as a diagnostic tool in this disorder. Diagnosis of the mosaic Tetrasomy 5p syndrome will rely on good clinical assessment, and appropriate cytogenetic studies, including analysis of skin fibroblasts. A child with unexplained developmental delay, seizures, hypotonia, and ventriculomegaly with or without dysmorphic features should be assessed carefully for pigmentary changes of the skin. If a diagnosis of mosaic 5p Tetrasomy is suspected, karyotype of cultured fibroblasts in addition to routine cytogenetic analysis, to look for this marker chromosome is warranted.
Joann K Brock - One of the best experts on this subject based on the ideXlab platform.
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mosaic Tetrasomy 5p resulting from an isochromosome 5p marker chromosome case report and review of literature
American Journal of Medical Genetics Part A, 2012Co-Authors: Joann K Brock, Sarah Dyack, Mark Ludman, Nadine Dumas, Michele Gaudet, Barbara MorashAbstract:We report on the fifth case, and oldest reported patient, of an individual affected with mosaic Tetrasomy 5p resulting from an isochromosome 5p [i(5)(p10)] marker chromosome. A syndrome of mosaic Tetrasomy 5p is defined, and includes the following features seen in the reported cases: developmental delay, seizures, ventriculomegaly (other brain anomalies), small stature/growth delay and mosaic pigmentary skin changes. Other findings include various dysmorphic facial features as well as hand and foot anomalies. This syndrome is likely more common than suggested in the literature, as the clinical presentation can be variable, and the chromosome anomaly is unlikely to be found on routine karyotype of peripheral blood lymphocytes. The i(5)(p10) marker chromosome is found only as a mosaic anomaly, with levels ranging from 0% to 10% in cultured lymphocytes to 12–85% in cultured skin fibroblasts. Microarray analysis performed on unstimulated lymphocytes from the patient in this report did not detect any evidence of the chromosome abnormality, indicating that this methodology may not be useful as a diagnostic tool in this disorder. Diagnosis of the mosaic Tetrasomy 5p syndrome will rely on good clinical assessment, and appropriate cytogenetic studies, including analysis of skin fibroblasts. A child with unexplained developmental delay, seizures, hypotonia, and ventriculomegaly with or without dysmorphic features should be assessed carefully for pigmentary changes of the skin. If a diagnosis of mosaic 5p Tetrasomy is suspected, karyotype of cultured fibroblasts in addition to routine cytogenetic analysis, to look for this marker chromosome is warranted. © 2012 Wiley Periodicals, Inc.
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mosaic Tetrasomy 5p resulting from an isochromosome 5p marker chromosome case report and review of literature
American Journal of Medical Genetics Part A, 2012Co-Authors: Joann K Brock, Sarah Dyack, Mark Ludman, Nadine Dumas, Michele Gaudet, Barbara MorashAbstract:We report on the fifth case, and oldest reported patient, of an individual affected with mosaic Tetrasomy 5p resulting from an isochromosome 5p [i(5)(p10)] marker chromosome. A syndrome of mosaic Tetrasomy 5p is defined, and includes the following features seen in the reported cases: developmental delay, seizures, ventriculomegaly (other brain anomalies), small stature/growth delay and mosaic pigmentary skin changes. Other findings include various dysmorphic facial features as well as hand and foot anomalies. This syndrome is likely more common than suggested in the literature, as the clinical presentation can be variable, and the chromosome anomaly is unlikely to be found on routine karyotype of peripheral blood lymphocytes. The i(5)(p10) marker chromosome is found only as a mosaic anomaly, with levels ranging from 0% to 10% in cultured lymphocytes to 12-85% in cultured skin fibroblasts. Microarray analysis performed on unstimulated lymphocytes from the patient in this report did not detect any evidence of the chromosome abnormality, indicating that this methodology may not be useful as a diagnostic tool in this disorder. Diagnosis of the mosaic Tetrasomy 5p syndrome will rely on good clinical assessment, and appropriate cytogenetic studies, including analysis of skin fibroblasts. A child with unexplained developmental delay, seizures, hypotonia, and ventriculomegaly with or without dysmorphic features should be assessed carefully for pigmentary changes of the skin. If a diagnosis of mosaic 5p Tetrasomy is suspected, karyotype of cultured fibroblasts in addition to routine cytogenetic analysis, to look for this marker chromosome is warranted.
