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Karoly Szuhai - One of the best experts on this subject based on the ideXlab platform.
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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
American journal of medical genetics. Part A, 2011Co-Authors: Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Roseane L Silva-grecco, Marly A S Balarin, Elena Prigmore, Ana C Krepischi-santos, Carla Rosenberg, Karoly SzuhaiAbstract:We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1-p24.3 region and a 14.83 Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while Chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions.
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Maternally Inherited Partial Monosomy 9p (pter → p24.1) and Partial Trisomy 20p (pter → p12.1) Characterized by Microarray Comparative Genomic Hybridization
American Journal of Medical Genetics Part A, 2011Co-Authors: Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Roseane L Silva-grecco, Marly A S Balarin, Elena Prigmore, Ana C Krepischi-santos, Carla Rosenberg, Karoly SzuhaiAbstract:We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1–p24.3 region and a 14.83 Mb duplication in the 20p12.1–p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while Chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions. © 2011 Wiley Periodicals, Inc.
David A. Piccoli - One of the best experts on this subject based on the ideXlab platform.
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snp array mapping of Chromosome 20p deletions genotypes phenotypes and copy number variation
Human Mutation, 2009Co-Authors: Binita M Kamath, Brian D Thiel, Laura K Conlin, Pedro S Munoz, Joseph T Glessner, Dinah Clark, Daniel M Warthen, Tamim H Shaikh, Ercan Mihci, David A. PiccoliAbstract:The use of array technology to define Chromosome deletions and duplications is bringing us closer to establishing a genotype/phenotype map of genomic copy number alterations. We studied 21 patients and 5 relatives with deletions of the short arm of Chromosome 20 using the Illumina HumanHap550 SNP array to 1) more accurately determine the deletion sizes, 2) identify and compare breakpoints, 3) establish genotype/phenotype correlations and 4) investigate the use of the HumanHap550 platform for analysis of Chromosome deletions. Deletions ranged from 95kb to 14.62Mb, and all of the breakpoints were unique. Eleven patients had deletions between 95kb and 4Mb and these individuals had normal development, with no anomalies outside of those associated with Alagille syndrome. The proximal and distal boundaries of these eleven deletions constitute a 5.4MB region, and we propose that haploinsufficiency for only 1 of the 12 genes in this region causes phenotypic abnormalities. This defines the JAG1 associated critical region, in which deletions do not confer findings other than those associated with Alagille syndrome. The other 10 patients had deletions between 3.28Mb and 14.62Mb, which extended outside the critical region, and notably, all of these patients, had developmental delay. This group had other findings such as autism, scoliosis and bifid uvula. We identified 47 additional polymorphic genome-wide copy number variants (>20 SNPs), with 0–5 variants called per patient. Deletions of the short arm of Chromosome 20 are associated with relatively mild and limited clinical anomalies. The use of SNP arrays provides accurate high-resolution definition of genomic abnormalities.
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Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion
American Journal of Medical Genetics, 2002Co-Authors: Ayala Laufer-cahana, Ian D. Krantz, Lynn Bason, Fengmin Lu, David A. Piccoli, Nancy B. SpinnerAbstract:We report an 18-month-old girl with Alagille syndrome, caused by a submicroscopic deletion of Chromosome 20p, including the Jagged1 (JAG1) gene. FISH using a BAC probe containing JAG1 identified the deletion. Chromosomes were normal at the 550 band level. The deletion was inherited from her phenotypically normal mother who was found to have the deletion in 9/20 cells studied from peripheral blood. This is the first report of a JAG1 deletion inherited from an apparently unaffected mosaic parent. © 2002 Wiley-Liss, Inc.
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Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.
American Journal of Human Genetics, 1994Co-Authors: Nancy B. Spinner, Elizabeth B. Rand, Paolo Fortina, Anna Genin, R. Taub, A. Semeraro, David A. PiccoliAbstract:Alagille syndrome is a clinically defined, dominantly inherited disorder affecting the liver, heart, face, eye, and vertebrae. Alagille syndrome has previously been localized to the short arm of Chromosome 20, on the basis of reports of a small number of patients with chromosomal deletions of 20p. The authors undertook a cytogenetic study of patients with Alagille syndrome and identified a family in which a cytologically balanced translocation between Chromosomes 2 and 20, 46, XX/XY, t(2;20)(q21.3;p12), is segregating concordantly with the disease. The break-point on Chromosome 20p in this t(2;20) is consistent with the shortest region of overlap demonstrated in the reported deletion patients. This is the first report of a translocation associated with 20p and Alagille syndrome, and this rearrangement confirms the location of the Alagille disease gene at 20p12. They have established a somatic cell hybrid from a lymphoblastoid cell line from one of the affected individuals that contains the derivative Chromosome 20 (20qter[yields]p12::2q21.3[yields]qter) but not the derivative Chromosome 2, the normal Chromosome 2, or the normal Chromosome 20. Southern blot and PCR analysis of probes and sequences from 20p have been studied to define the location of the translocation breakpoint. The results show that the breakpoint lies distalmore » to D20S61 and D20S56 within band 20p12. 33 refs., 5 figs.« less
Érika L Freitas - One of the best experts on this subject based on the ideXlab platform.
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Maternally inherited partial monosomy 9p (pter → p24.1) and partial trisomy 20p (pter → p12.1) characterized by microarray comparative genomic hybridization.
American journal of medical genetics. Part A, 2011Co-Authors: Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Roseane L Silva-grecco, Marly A S Balarin, Elena Prigmore, Ana C Krepischi-santos, Carla Rosenberg, Karoly SzuhaiAbstract:We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1-p24.3 region and a 14.83 Mb duplication in the 20p12.1-p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while Chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions.
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Maternally Inherited Partial Monosomy 9p (pter → p24.1) and Partial Trisomy 20p (pter → p12.1) Characterized by Microarray Comparative Genomic Hybridization
American Journal of Medical Genetics Part A, 2011Co-Authors: Érika L Freitas, Susan M Gribble, Milena Simioni, Társis P Vieira, Roseane L Silva-grecco, Marly A S Balarin, Elena Prigmore, Ana C Krepischi-santos, Carla Rosenberg, Karoly SzuhaiAbstract:We report on a 17-year-old patient with midline defects, ocular hypertelorism, neuropsychomotor development delay, neonatal macrosomy, and dental anomalies. DNA copy number investigations using a Whole Genome TilePath array consisting, of 30K BAC/PAC clones showed a 6.36 Mb deletion in the 9p24.1–p24.3 region and a 14.83 Mb duplication in the 20p12.1–p13 region, which derived from a maternal balanced t(9;20)(p24.1;p12.1) as shown by FISH studies. Monosomy 9p is a well-delineated chromosomal syndrome with characteristic clinical features, while Chromosome 20p duplication is a rare genetic condition. Only a handful of cases of monosomy 9/trisomy 20 have been previously described. In this report, we compare the phenotype of our patient with those already reported in the literature, and discuss the role of DMRT, DOCK8, FOXD4, VLDLR, RSPO4, AVP, RASSF2, PROKR2, BMP2, MKKS, and JAG1, all genes mapping to the deleted and duplicated regions. © 2011 Wiley Periodicals, Inc.
Ayman H Fanous - One of the best experts on this subject based on the ideXlab platform.
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novel linkage to Chromosome 20p using latent classes of psychotic illness in 270 irish high density families
Biological Psychiatry, 2008Co-Authors: Ayman H Fanous, Michael C Neale, Bradley T Webb, Richard E Straub, F A Oneill, Dermot Walsh, Brien P Riley, Kenneth S KendlerAbstract:Background Several lines of evidence suggest that the clinical heterogeneity of schizophrenia is due to genetic heterogeneity. Genetic heterogeneity may decrease the signal-to-noise ratio in linkage and association studies. Therefore, linkage studies of clinically homogeneous classes of psychotic illness may result in greater power to detect at least some loci. Methods Latent class analysis was used to divide psychotic subjects from 270 Irish high-density families (N = 755) into six classes based on the Operational Criteria Checklist for Psychotic Illness. We heuristically call them Bipolar, Schizoaffective, Mania, Schizomania, Deficit Syndrome, and Core Schizophrenia. The latter four had prevalences of greater than .08 and were individually tested for linkage in a 10-cM nonparametric autosomal genomewide scan. Empirical significance was determined using 200 simulated genome scans. Results Seven regions achieved empirical criteria for suggestive significance for at least one latent class: 5q23.2-q35.3, 8q13.1-q23.1, 10q23.33-q26.3, 12q21.2-q24.32, 19q13.32-q13.43, 20p13-q22.3, and 21q11.2-q22.3. Five of 200 simulated scans resulted in seven suggestively significant loci (experiment-wide p = .03). Furthermore, at 20p13-p12.2, the Mania and Schizomania classes individually achieved criteria, whereas Deficit Syndrome had a suggestive logarithm of the odds peak 28 cM centromeric to this locus. Conclusions Using empirically derived, clinically homogeneous phenotypes, four chromosomal regions were suggestively linked but provided little evidence of linkage using traditional operationalized criteria. This approach was particularly fruitful on Chromosome 20, which had previously yielded little evidence of linkage. Future studies of psychiatric illness may increase their ability to detect linkage or association by using clinically homogeneous phenotypes.
Kenneth S Kendler - One of the best experts on this subject based on the ideXlab platform.
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novel linkage to Chromosome 20p using latent classes of psychotic illness in 270 irish high density families
Biological Psychiatry, 2008Co-Authors: Ayman H Fanous, Michael C Neale, Bradley T Webb, Richard E Straub, F A Oneill, Dermot Walsh, Brien P Riley, Kenneth S KendlerAbstract:Background Several lines of evidence suggest that the clinical heterogeneity of schizophrenia is due to genetic heterogeneity. Genetic heterogeneity may decrease the signal-to-noise ratio in linkage and association studies. Therefore, linkage studies of clinically homogeneous classes of psychotic illness may result in greater power to detect at least some loci. Methods Latent class analysis was used to divide psychotic subjects from 270 Irish high-density families (N = 755) into six classes based on the Operational Criteria Checklist for Psychotic Illness. We heuristically call them Bipolar, Schizoaffective, Mania, Schizomania, Deficit Syndrome, and Core Schizophrenia. The latter four had prevalences of greater than .08 and were individually tested for linkage in a 10-cM nonparametric autosomal genomewide scan. Empirical significance was determined using 200 simulated genome scans. Results Seven regions achieved empirical criteria for suggestive significance for at least one latent class: 5q23.2-q35.3, 8q13.1-q23.1, 10q23.33-q26.3, 12q21.2-q24.32, 19q13.32-q13.43, 20p13-q22.3, and 21q11.2-q22.3. Five of 200 simulated scans resulted in seven suggestively significant loci (experiment-wide p = .03). Furthermore, at 20p13-p12.2, the Mania and Schizomania classes individually achieved criteria, whereas Deficit Syndrome had a suggestive logarithm of the odds peak 28 cM centromeric to this locus. Conclusions Using empirically derived, clinically homogeneous phenotypes, four chromosomal regions were suggestively linked but provided little evidence of linkage using traditional operationalized criteria. This approach was particularly fruitful on Chromosome 20, which had previously yielded little evidence of linkage. Future studies of psychiatric illness may increase their ability to detect linkage or association by using clinically homogeneous phenotypes.