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Rodney R Higgins - One of the best experts on this subject based on the ideXlab platform.
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common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13 18 20 and 21 karyotype phenotype correlations
Prenatal Diagnosis, 2000Co-Authors: Robert Wallerstein, Ming Tsung Yu, Peter Benn, Catherine Lee Bowen, Barbara F Crandall, Christine M Disteche, Roger P Donahue, Betty Harrison, Douglas W Hershey, Rodney R HigginsAbstract:Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of 47,+21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47,+13/46, 52% (11/21) versus 75% (6/8) for 47,+18/46, 4.5% (6/132) versus 20% (4/20) 47,+20/46, and 45% (27/60) versus 59% (22/37) for 47,+21/46. Phenotypically normal liveborns were observed with mean trisomic cell lines of 9.3% for 47,+13/46, 8.6% for 47,+18/46, 27% for 47,+20/46, and 17% for 47,+21/46. Cytogenetic confirmation rates were 46% (6/13 cases) for 47,+13/46 mosaicism, 66% (8/12 cases) for 47,+18/46, 10% (10/97 cases) for 47,+20/46, and 44% (24/54 cases) for 47,+21/46. There were higher confirmation rates in pregnancies with abnormal versus normal outcome: 50% versus 44% for 47,+13/46 mosaicism, 100% versus 33% for 47,+18/46, 66% versus 7% for 47,+20/46, and 55% versus 40% for 47,+21/46. Repeat amniocentesis is not helpful in predicting clinical outcome. It may be considered when there is insufficient number of cells or cultures to establish a diagnosis. Fetal blood sampling may have a role in mosaic trisomy 13, 18, and 21 as the risk for abnormal outcome increases with positive confirmation: 1/5 (20%) normal cases versus 5/8 (62%) abnormal cases. High resolution ultrasound examination(s) is recommended for clinical correlation and to facilitate genetic counselling. Copyright © 2000 John Wiley & Sons, Ltd.
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rare trisomy mosaicism diagnosed in amniocytes involving an autosome other than chromosomes 13 18 20 and 21 karyotype phenotype correlations
Prenatal Diagnosis, 1997Co-Authors: Ming Tsung Yu, Peter Benn, Rodney R Higgins, Daniel L Van Dyke, Christy Bradshaw, Lisa G Shaffer, Gabriel S Khodr, Cynthia C Morton, Hungshu Wang, Arthur R BrothmanAbstract:In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally through amniocentesis were reviewed. These rare trisomy mosaicism cases include 54 from 17 cytogenetic laboratories, 34 from a previous North American mosaicism survey, and 63 from published reports. All were cases of true mosaicism with information available on pregnancy outcome, and with no evidence of biased ascertainment. There were 11 cases of 46/47,+2; 2 of 46/47,+3; 2 of 46/47,+4; 5 of 46/47,+5; 3 of 46/47,+6; 8 of 46/47,+7; 14 of 46/47,+8; 25 of 46/47,+9; 2 of 46/47,+11; 23 of 46/47,+12; 5 of 46/47,+14; 11 of 46/47,+15; 21 of 46/47,+16; 7 of 46/47,+17; 1 of 46/47,+19; and 11 of 46/47,+22. As to the risk of an abnormal outcome, the data showed a very high risk (>60 per cent) for 46/47,+2, 46/47,+16, and 46/47,+22; a high risk (40–59 per cent) for 46/47,+5, 46/47,+9, 46/47,+14, and 46/47,+15; a moderately high risk (20–39 per cent) for 46/47,+12; a moderate risk (up to 19 per cent) for 46/47,+7 and 46/47,+8; a low risk for 46/47,+17; and an undetermined risk, due to lack of cases, for the remaining autosomal trisomy mosaics. Most cases were evaluated at birth or at termination, so subtle abnormalities may have escaped detection and developmental retardation was not evaluated at all. Comparison of the phenotypes of prenatally diagnosed abnormal cases and postnatally diagnosed cases with the same diagnosis showed considerable concordance. Since the majority of anomalies noted are prenatally detectable with ultrasound, an ultrasound examination should be performed in all prenatally diagnosed cases. In cytogenetic confirmation studies, the data showed much higher confirmation rates in cases with abnormal outcomes than in cases with normal outcomes [81 per cent vs. 55 per cent for fibroblasts (from skin, fetal tissue, and/or cord); 88 per cent vs. 46 per cent for placental cells; 22 per cent vs. 10 per cent for blood cells]. The confirmation rate reached 85 per cent when both fibroblasts and placental tissues were studied in the same case (with trisomic cells found in one or the other, or both). Therefore, one must emphasize that both fibroblasts and placental tissues should be studied. Except for 46/47,+8 and 46/47,+9, PUBS is of limited value for prenatal diagnosis of rare trisomy mosaicism. DNA studies for UPD are suggested for certain chromosomes with established imprinting effects, such as chromosomes 7, 11, 14, and 15, and perhaps for chromosomes 2 and 16, where imprinting effects are likely. © 1997 by John Wiley & Sons, Ltd.
Ming Tsung Yu - One of the best experts on this subject based on the ideXlab platform.
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common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13 18 20 and 21 karyotype phenotype correlations
Prenatal Diagnosis, 2000Co-Authors: Robert Wallerstein, Ming Tsung Yu, Peter Benn, Catherine Lee Bowen, Barbara F Crandall, Christine M Disteche, Roger P Donahue, Betty Harrison, Douglas W Hershey, Rodney R HigginsAbstract:Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of 47,+21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47,+13/46, 52% (11/21) versus 75% (6/8) for 47,+18/46, 4.5% (6/132) versus 20% (4/20) 47,+20/46, and 45% (27/60) versus 59% (22/37) for 47,+21/46. Phenotypically normal liveborns were observed with mean trisomic cell lines of 9.3% for 47,+13/46, 8.6% for 47,+18/46, 27% for 47,+20/46, and 17% for 47,+21/46. Cytogenetic confirmation rates were 46% (6/13 cases) for 47,+13/46 mosaicism, 66% (8/12 cases) for 47,+18/46, 10% (10/97 cases) for 47,+20/46, and 44% (24/54 cases) for 47,+21/46. There were higher confirmation rates in pregnancies with abnormal versus normal outcome: 50% versus 44% for 47,+13/46 mosaicism, 100% versus 33% for 47,+18/46, 66% versus 7% for 47,+20/46, and 55% versus 40% for 47,+21/46. Repeat amniocentesis is not helpful in predicting clinical outcome. It may be considered when there is insufficient number of cells or cultures to establish a diagnosis. Fetal blood sampling may have a role in mosaic trisomy 13, 18, and 21 as the risk for abnormal outcome increases with positive confirmation: 1/5 (20%) normal cases versus 5/8 (62%) abnormal cases. High resolution ultrasound examination(s) is recommended for clinical correlation and to facilitate genetic counselling. Copyright © 2000 John Wiley & Sons, Ltd.
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rare trisomy mosaicism diagnosed in amniocytes involving an autosome other than chromosomes 13 18 20 and 21 karyotype phenotype correlations
Prenatal Diagnosis, 1997Co-Authors: Ming Tsung Yu, Peter Benn, Rodney R Higgins, Daniel L Van Dyke, Christy Bradshaw, Lisa G Shaffer, Gabriel S Khodr, Cynthia C Morton, Hungshu Wang, Arthur R BrothmanAbstract:In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally through amniocentesis were reviewed. These rare trisomy mosaicism cases include 54 from 17 cytogenetic laboratories, 34 from a previous North American mosaicism survey, and 63 from published reports. All were cases of true mosaicism with information available on pregnancy outcome, and with no evidence of biased ascertainment. There were 11 cases of 46/47,+2; 2 of 46/47,+3; 2 of 46/47,+4; 5 of 46/47,+5; 3 of 46/47,+6; 8 of 46/47,+7; 14 of 46/47,+8; 25 of 46/47,+9; 2 of 46/47,+11; 23 of 46/47,+12; 5 of 46/47,+14; 11 of 46/47,+15; 21 of 46/47,+16; 7 of 46/47,+17; 1 of 46/47,+19; and 11 of 46/47,+22. As to the risk of an abnormal outcome, the data showed a very high risk (>60 per cent) for 46/47,+2, 46/47,+16, and 46/47,+22; a high risk (40–59 per cent) for 46/47,+5, 46/47,+9, 46/47,+14, and 46/47,+15; a moderately high risk (20–39 per cent) for 46/47,+12; a moderate risk (up to 19 per cent) for 46/47,+7 and 46/47,+8; a low risk for 46/47,+17; and an undetermined risk, due to lack of cases, for the remaining autosomal trisomy mosaics. Most cases were evaluated at birth or at termination, so subtle abnormalities may have escaped detection and developmental retardation was not evaluated at all. Comparison of the phenotypes of prenatally diagnosed abnormal cases and postnatally diagnosed cases with the same diagnosis showed considerable concordance. Since the majority of anomalies noted are prenatally detectable with ultrasound, an ultrasound examination should be performed in all prenatally diagnosed cases. In cytogenetic confirmation studies, the data showed much higher confirmation rates in cases with abnormal outcomes than in cases with normal outcomes [81 per cent vs. 55 per cent for fibroblasts (from skin, fetal tissue, and/or cord); 88 per cent vs. 46 per cent for placental cells; 22 per cent vs. 10 per cent for blood cells]. The confirmation rate reached 85 per cent when both fibroblasts and placental tissues were studied in the same case (with trisomic cells found in one or the other, or both). Therefore, one must emphasize that both fibroblasts and placental tissues should be studied. Except for 46/47,+8 and 46/47,+9, PUBS is of limited value for prenatal diagnosis of rare trisomy mosaicism. DNA studies for UPD are suggested for certain chromosomes with established imprinting effects, such as chromosomes 7, 11, 14, and 15, and perhaps for chromosomes 2 and 16, where imprinting effects are likely. © 1997 by John Wiley & Sons, Ltd.
Arthur R Brothman - One of the best experts on this subject based on the ideXlab platform.
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rare trisomy mosaicism diagnosed in amniocytes involving an autosome other than chromosomes 13 18 20 and 21 karyotype phenotype correlations
Prenatal Diagnosis, 1997Co-Authors: Ming Tsung Yu, Peter Benn, Rodney R Higgins, Daniel L Van Dyke, Christy Bradshaw, Lisa G Shaffer, Gabriel S Khodr, Cynthia C Morton, Hungshu Wang, Arthur R BrothmanAbstract:In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally through amniocentesis were reviewed. These rare trisomy mosaicism cases include 54 from 17 cytogenetic laboratories, 34 from a previous North American mosaicism survey, and 63 from published reports. All were cases of true mosaicism with information available on pregnancy outcome, and with no evidence of biased ascertainment. There were 11 cases of 46/47,+2; 2 of 46/47,+3; 2 of 46/47,+4; 5 of 46/47,+5; 3 of 46/47,+6; 8 of 46/47,+7; 14 of 46/47,+8; 25 of 46/47,+9; 2 of 46/47,+11; 23 of 46/47,+12; 5 of 46/47,+14; 11 of 46/47,+15; 21 of 46/47,+16; 7 of 46/47,+17; 1 of 46/47,+19; and 11 of 46/47,+22. As to the risk of an abnormal outcome, the data showed a very high risk (>60 per cent) for 46/47,+2, 46/47,+16, and 46/47,+22; a high risk (40–59 per cent) for 46/47,+5, 46/47,+9, 46/47,+14, and 46/47,+15; a moderately high risk (20–39 per cent) for 46/47,+12; a moderate risk (up to 19 per cent) for 46/47,+7 and 46/47,+8; a low risk for 46/47,+17; and an undetermined risk, due to lack of cases, for the remaining autosomal trisomy mosaics. Most cases were evaluated at birth or at termination, so subtle abnormalities may have escaped detection and developmental retardation was not evaluated at all. Comparison of the phenotypes of prenatally diagnosed abnormal cases and postnatally diagnosed cases with the same diagnosis showed considerable concordance. Since the majority of anomalies noted are prenatally detectable with ultrasound, an ultrasound examination should be performed in all prenatally diagnosed cases. In cytogenetic confirmation studies, the data showed much higher confirmation rates in cases with abnormal outcomes than in cases with normal outcomes [81 per cent vs. 55 per cent for fibroblasts (from skin, fetal tissue, and/or cord); 88 per cent vs. 46 per cent for placental cells; 22 per cent vs. 10 per cent for blood cells]. The confirmation rate reached 85 per cent when both fibroblasts and placental tissues were studied in the same case (with trisomic cells found in one or the other, or both). Therefore, one must emphasize that both fibroblasts and placental tissues should be studied. Except for 46/47,+8 and 46/47,+9, PUBS is of limited value for prenatal diagnosis of rare trisomy mosaicism. DNA studies for UPD are suggested for certain chromosomes with established imprinting effects, such as chromosomes 7, 11, 14, and 15, and perhaps for chromosomes 2 and 16, where imprinting effects are likely. © 1997 by John Wiley & Sons, Ltd.
Peter Benn - One of the best experts on this subject based on the ideXlab platform.
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common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13 18 20 and 21 karyotype phenotype correlations
Prenatal Diagnosis, 2000Co-Authors: Robert Wallerstein, Ming Tsung Yu, Peter Benn, Catherine Lee Bowen, Barbara F Crandall, Christine M Disteche, Roger P Donahue, Betty Harrison, Douglas W Hershey, Rodney R HigginsAbstract:Karyotype–phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of 47,+21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47,+13/46, 52% (11/21) versus 75% (6/8) for 47,+18/46, 4.5% (6/132) versus 20% (4/20) 47,+20/46, and 45% (27/60) versus 59% (22/37) for 47,+21/46. Phenotypically normal liveborns were observed with mean trisomic cell lines of 9.3% for 47,+13/46, 8.6% for 47,+18/46, 27% for 47,+20/46, and 17% for 47,+21/46. Cytogenetic confirmation rates were 46% (6/13 cases) for 47,+13/46 mosaicism, 66% (8/12 cases) for 47,+18/46, 10% (10/97 cases) for 47,+20/46, and 44% (24/54 cases) for 47,+21/46. There were higher confirmation rates in pregnancies with abnormal versus normal outcome: 50% versus 44% for 47,+13/46 mosaicism, 100% versus 33% for 47,+18/46, 66% versus 7% for 47,+20/46, and 55% versus 40% for 47,+21/46. Repeat amniocentesis is not helpful in predicting clinical outcome. It may be considered when there is insufficient number of cells or cultures to establish a diagnosis. Fetal blood sampling may have a role in mosaic trisomy 13, 18, and 21 as the risk for abnormal outcome increases with positive confirmation: 1/5 (20%) normal cases versus 5/8 (62%) abnormal cases. High resolution ultrasound examination(s) is recommended for clinical correlation and to facilitate genetic counselling. Copyright © 2000 John Wiley & Sons, Ltd.
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rare trisomy mosaicism diagnosed in amniocytes involving an autosome other than chromosomes 13 18 20 and 21 karyotype phenotype correlations
Prenatal Diagnosis, 1997Co-Authors: Ming Tsung Yu, Peter Benn, Rodney R Higgins, Daniel L Van Dyke, Christy Bradshaw, Lisa G Shaffer, Gabriel S Khodr, Cynthia C Morton, Hungshu Wang, Arthur R BrothmanAbstract:In order to determine the significance of trisomy mosaicism of an autosome other than chromosomes 13, 18, 20, and 21, 151 such cases diagnosed prenatally through amniocentesis were reviewed. These rare trisomy mosaicism cases include 54 from 17 cytogenetic laboratories, 34 from a previous North American mosaicism survey, and 63 from published reports. All were cases of true mosaicism with information available on pregnancy outcome, and with no evidence of biased ascertainment. There were 11 cases of 46/47,+2; 2 of 46/47,+3; 2 of 46/47,+4; 5 of 46/47,+5; 3 of 46/47,+6; 8 of 46/47,+7; 14 of 46/47,+8; 25 of 46/47,+9; 2 of 46/47,+11; 23 of 46/47,+12; 5 of 46/47,+14; 11 of 46/47,+15; 21 of 46/47,+16; 7 of 46/47,+17; 1 of 46/47,+19; and 11 of 46/47,+22. As to the risk of an abnormal outcome, the data showed a very high risk (>60 per cent) for 46/47,+2, 46/47,+16, and 46/47,+22; a high risk (40–59 per cent) for 46/47,+5, 46/47,+9, 46/47,+14, and 46/47,+15; a moderately high risk (20–39 per cent) for 46/47,+12; a moderate risk (up to 19 per cent) for 46/47,+7 and 46/47,+8; a low risk for 46/47,+17; and an undetermined risk, due to lack of cases, for the remaining autosomal trisomy mosaics. Most cases were evaluated at birth or at termination, so subtle abnormalities may have escaped detection and developmental retardation was not evaluated at all. Comparison of the phenotypes of prenatally diagnosed abnormal cases and postnatally diagnosed cases with the same diagnosis showed considerable concordance. Since the majority of anomalies noted are prenatally detectable with ultrasound, an ultrasound examination should be performed in all prenatally diagnosed cases. In cytogenetic confirmation studies, the data showed much higher confirmation rates in cases with abnormal outcomes than in cases with normal outcomes [81 per cent vs. 55 per cent for fibroblasts (from skin, fetal tissue, and/or cord); 88 per cent vs. 46 per cent for placental cells; 22 per cent vs. 10 per cent for blood cells]. The confirmation rate reached 85 per cent when both fibroblasts and placental tissues were studied in the same case (with trisomic cells found in one or the other, or both). Therefore, one must emphasize that both fibroblasts and placental tissues should be studied. Except for 46/47,+8 and 46/47,+9, PUBS is of limited value for prenatal diagnosis of rare trisomy mosaicism. DNA studies for UPD are suggested for certain chromosomes with established imprinting effects, such as chromosomes 7, 11, 14, and 15, and perhaps for chromosomes 2 and 16, where imprinting effects are likely. © 1997 by John Wiley & Sons, Ltd.
Fiona C Cuthbertson - One of the best experts on this subject based on the ideXlab platform.
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population based study of event rate incidence case fatality and mortality for all acute vascular events in all arterial territories oxford vascular study
The Lancet, 2005Co-Authors: Peter M Rothwell, A J Coull, Louise E Silver, Jack F Fairhead, Matthew F Giles, Caroline E Lovelock, Jne Redgrave, Linda M Bull, Sjv Welch, Fiona C CuthbertsonAbstract:Background: Acute coronary, cerebrovascular, and peripheral vascular events have common underlying arterial pathology, risk factors, and preventive treatments, but they are rarely studied concurrently. In the Oxford Vascular Study, we determined the comparative epidemiology of different acute vascular syndromes, their current burdens, and the potential effect of the ageing population on future rates. Methods: We prospectively assessed all individuals presenting with an acute vascular event of any type in any arterial territory irrespective of age in a population of 91 106 in Oxfordshire, UK, in 2002-05. Findings: 2024 acute vascular events occurred in 1657 individuals: 918 (45%) cerebrovascular (618 stroke, 300 transient ischaemic attacks [TIA]); 856 (42%) coronary vascular (159 ST-elevation myocardial infarction, 316 non-ST-elevation myocardial infarction, 218 unstable angina, 163 sudden cardiac death); 188 (9%) peripheral vascular (43 aortic, 53 embolic visceral or limb ischaemia, 92 critical limb ischaemia); and 62 unclassifiable deaths. Relative incidence of cerebrovascular events compared with coronary events was 1·19 (95% CI 1·06-1·33) overall; 1·40 (1·23-1·59) for non-fatal events; and 1·21 (1·04-1·41) if TIA and unstable angina were further excluded. Event and incidence rates rose steeply with age in all arterial territories, with 735 (80%) cerebrovascular, 623 (73%) coronary, and 147 (78%) peripheral vascular events in 12 886 (14%) individuals aged 65 years or older; and 503 (54%), 402 (47%), and 105 (56%), respectively, in the 5919 (6%) aged 75 years or older. Although case-fatality rates increased with age, 736 (47%) of 1561 non-fatal events occurred at age 75 years or older. Interpretation: The high rates of acute vascular events outside the coronary arterial territory and the steep rise in event rates with age in all territories have implications for prevention strategies, clinical trial design, and the targeting of funds for service provision and research.
