The Experts below are selected from a list of 309 Experts worldwide ranked by ideXlab platform
Joan Overhauser - One of the best experts on this subject based on the ideXlab platform.
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Report of the Third International Workshop on Human Chromosome 18 Mapping 1995
Cytogenetic and Genome Research, 1995Co-Authors: Joan Overhauser, Gary A. Silverman, Steve Gerken, A. Geurts Van KesselAbstract:The fourth international workshop on human Chromosome 18 mapping was held in Boston, Massachusetts, USA on October 7-9, 1996. The workshop was attended by 34 participants from 7 countries. The goals of the workshop were to (1) generate integrated genetic and physical maps, (2) update the transcriptional map, (3) assess the syntenic relationships between human Chromosome 18 and the mouse genome, and (4) establish a Chromosome 18 web site.
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Integration of 28 STSs into the physical map of human Chromosome 18
Genomics, 1994Co-Authors: Steve Gerken, Joan Overhauser, Kimberlee E. Fish, Denise Uyar, Mihael H. Polymeropoulos, Paige Bradley, Ray White, Gary A. SilvermanAbstract:Genes on human Chromosome 18 are associated with familial glucocorticoid deficiency (MC2R), pemphigus vulgaris (DSG3) and foliaceus (DSG1), familial amyloidosis (TTR), colorectal carcinoma (DCC), erythropoietic protoporphyria (FECH), follicular lymphoma (BCL2, FVT1), and congenital methemoglobinemia (CYB5). As the resolution of human genetic maps improves, linkage between other diseases and specific regions of Chromosome 18 will occur. A physical map of human Chromosome 18 will prove useful in identifying candidate genes that are associated with these disorders. Using various physical and genetic mapping techniques, over 35 genes and 19 expressed sequence tags (ESTs) are assigned to human Chromosome 18. Most of these genes and several of the ESTs were sublocalized using a well-defined panel of somatic cell hybrids that contain different segments of human Chromosome 18. Despite recent efforts, progress in mapping human Chromosome 18 has lagged behind that achieved for other Chromosomes. Thus, the purpose of this study was to integrate 9 new transcriptional tags [8 brain ESTs (8) and the melanocortin 4 receptor (MC4R) (3)] and 19 simple sequence repeats (SSRs) into the physical map of human Chromosome 18. The SSRs were isolated by screening genomic DNA libraries constructed in M13mp18 vectors with oligonucleotide probes that detected dinucleotide d(CA)- andmore » tetranucleotide-repeat motifs. DNA sequences of clones that contained microsatellite repeats were obtained by thermal-cycle sequencing, and STSs were developed from clones that contained numerous repeats. STSs that identified highly polymorphic loci in eight unrelated CEPH parents were used for genotyping. Results of linkage analyses and estimates of heterozygosity for these markers will be reported. 9 refs., 1 fig., 1 tab.« less
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molecular mapping of the edwards syndrome phenotype to two noncontiguous regions on Chromosome 18
American Journal of Human Genetics, 1994Co-Authors: Leslie Boghosiansell, Reema Mewar, Wilbur Harrison, Raymond M Shapiro, Elaine H Zackai, John C Carey, Laura Daviskeppen, Louanne Hudgins, Joan OverhauserAbstract:In an effort to identify regions on Chromosome 18 that may be critical in the appearance of the Edwards syndrome phenotype, we have analyzed six patients with partial duplication of Chromosome 18. Four of the patients have duplications involving the distal half of 18q (18q21.1-qter) and are very mildly affected. The remaining two patients have most of 18q (18q12.1-qter) duplicated, are severely affected, and have been diagnosed with Edwards syndrome. We have employed FISH, using DNA probes from a Chromosome 18-specific library, for the precise determination of the duplicated material in each of these patients. The clinical features and the extent of the chromosomal duplication in these patients were compared with four previously reported partial trisomy 18 patients, to identify regions of Chromosome 18 that may be responsible for certain clinical features of trisomy 18. The comparative analysis confirmed that there is no single region on 18q that is sufficient to produce the trisomy 18 phenotype and identified two regions on 18q that may work in conjunction to produce the Edwards syndrome phenotype. In addition, correlative analysis indicates that duplication of 18q12.3-q22.1 may be associated with more severe mental retardation in trisomy 18 individuals.
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Sublocalization of 21 Chromosome 18-Specific Microsatellite Markers
Genomics, 1993Co-Authors: Katherine Rojas, Joan OverhauserAbstract:Few polymorphic markers have been mapped to Chromosome 18 compared with other human Chromosomes. Recently, a concerted effort has been made to generate a microsatellite genetic linkage map of Chromosome 18 using markers that have also been physically mapped to the Chromosome. However, distances between some of the markers in this map are as large as 28.5 cM. Thus, additional markers are needed to complement and extend this genetic map. Twenty-one additional microsatellite markers have been mapped to Chromosome 18 by Weissenbach et al. Although the markers appear to be spaced at regular intervals along the Chromosome based on recombination frequencies, the physical locations of these markers have not been determined. To determine the physical location of the 21 markers on Chromosome 18, the markers were regionally mapped using a panel of 20 somatic cell hybrids that contain deletions or translocations involving Chromosome 18. The localizations of the markers were determined using genomic DNA from the cell hybrids in PCR experiments. 9 refs., 1 fig.
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STS map of genes and anonymous DNA fragments on human Chromosome 18 using a panel of somatic cell hybrids.
Genomics, 1993Co-Authors: Joan Overhauser, Antonie Debra Kline, Katherine Rojas, Reema Mewar, Gary A. SilvermanAbstract:Somatic cell hybrids containing different deleted regions of Chromosome 18 derived form patients with balanced translocations or terminal deletions were used to create a deletion mapping panel. Twenty-four sequence-tagged sites (STSs) for 17 genes and 7 anonymous polymorphic DNA fragments were identified. These STSs were used to map the 24 loci to 18 defined regions of Chromosome 18. Both ERV1, previously mapped to 18q22-q23, and YES1, previously mapped to 18q21.3, were found to map to 18p11.21-pter. Several genes previously mapped to 18q21 were found to be in the order cen-SSAV1-DCC-FECH-GRP-BCL2-PLANH2-tel. The precise mapping of genes to Chromosome 18 should help in determining whether these genes may be involved in the etiology of specific chromosomal syndromes associated with Chromosome 18. The mapping of the poloymorphic loci will assist in the integration of the physical map with the recombination map of Chromosome 18. 43 refs., 2 figs., 1 tab.
Patricia Heard - One of the best experts on this subject based on the ideXlab platform.
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Chromosome 18 gene dosage map 2.0
Human Genetics, 2018Co-Authors: Jannine D. Cody, Minire Hasi-zogaj, Patricia Heard, Annice Hill, David Rupert, Courtney Sebold, Daniel E. HaleAbstract:In 2009, we described the first generation of the Chromosome 18 gene dosage maps. This tool included the annotation of each gene as well as each phenotype associated region. The goal of these annotated genetic maps is to provide clinicians with a tool to appreciate the potential clinical impact of a Chromosome 18 deletion or duplication. These maps are continually updated with the most recent and relevant data regarding Chromosome 18. Over the course of the past decade, there have also been advances in our understanding of the molecular mechanisms underpinning genetic disease. Therefore, we have updated the maps to more accurately reflect this knowledge. Our Gene Dosage Map 2.0 has expanded from the gene and phenotype maps to also include a pair of maps specific to hemizygosity and suprazygosity. Moreover, we have revamped our classification from mechanistic definitions (e.g., haplosufficient, haploinsufficient) to clinically oriented classifications (e.g., risk factor, conditional, low penetrance, causal). This creates a map with gradient of classifications that more accurately represents the spectrum between the two poles of pathogenic and benign. While the data included in this manuscript are specific to Chromosome 18, they may serve as a clinically relevant model that can be applied to the rest of the genome.
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The Chromosome 18 Clinical Resource Center.
Molecular Genetics & Genomic Medicine, 2018Co-Authors: Jannine D. Cody, Minire Hasi-zogaj, Patricia Heard, Annice Hill, David Rupert, Courtney Sebold, Bridgette Soileau, Daniel E. HaleAbstract:BACKGROUND: The Chromosome 18 Clinical Research Center has created a pediatrician-friendly virtual resource center for managing patients with Chromosome 18 abnormalities. To date, children with rare Chromosome abnormalities have been cared for either symptomatically or palliatively as a reaction to the presenting medical problems. As we enter an era of genomic-informed medicine, we can provide children, even those with individually unique Chromosome abnormalities, with proactive medical care and management based on the most contemporary data on their specific genomic change. It is problematic for practicing physicians to obtain and use the emerging data on specific genes because this information is derived from diverse sources (e.g., animal studies, case reports, in vitro explorations) and is often published in sources that are not easily accessible in the clinical setting. METHODS: The Chromosome 18 Clinical Resource Center remedies this challenging problem by curating and synthesizing the data with clinical implications. The data are collected from our database of over 26 years of natural history and medical data from over 650 individuals with Chromosome 18 abnormalities. RESULTS: The resulting management guides and video presentations are a first edition of this collated data specifically oriented to guide clinicians toward the optimization of care for each child. CONCLUSION: The Chromosome 18 data and guides also serve as models for an approach to the management of any individual with a rare Chromosome abnormality of which there are over 1,300 born every year in the US alone.
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Psychiatric syndromes in individuals with Chromosome 18 abnormalities.
American journal of medical genetics. Part B Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2010Co-Authors: Juan Zavala, Patricia Heard, Mercedes Ramirez, Rolando Medina, Erika Carter, Analisa Crandall, Daniel Hale, Jannine Cody, Michael EscamillaAbstract:Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of Chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of Chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the Chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the Chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the Chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the Chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions.
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psychiatric syndromes in individuals with Chromosome 18 abnormalities
American Journal of Medical Genetics, 2009Co-Authors: Juan Zavala, Jannine D. Cody, Patricia Heard, Daniel E. Hale, Mercedes Ramirez, Rolando Medina, Erika Carter, Analisa C Crandall, Michael EscamillaAbstract:Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of Chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of Chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the Chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the Chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the Chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the Chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions. © 2009 Wiley-Liss, Inc.
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a gene dosage map of Chromosome 18 a map with clinical utility
Genetics in Medicine, 2009Co-Authors: Jannine D. Cody, Patricia Heard, Courtney Sebold, Erika Carter, Daniel E. HaleAbstract:Purpose: Microarray technology has revolutionized the field of clinical genetics with the ability to detect very small copy number changes. However, challenges remain in linking genotype with phenotype. Our goal is to enable a clinical geneticist to align the molecular karyotype information from an individual patient with the annotated genomic content, so as to provide a clinical prognosis. Methods: We have combined data regarding copy number variations, microdeletion syndromes, and classical Chromosome abnormalities, with the sparse but growing knowledge about the biological role of specific genes to create a genomic map of Chromosome 18 with clinical utility. Results: We have created a draft model of such a map, drawing from our long-standing interest in and data regarding the abnormalities of Chromosome 18. Conclusion: We have taken the first step toward creating a genomic map that can be used by the clinician in counseling and directing preventive or symptomatic care of individuals with Chromosome 18 abnormalities.
Daniel E. Hale - One of the best experts on this subject based on the ideXlab platform.
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Chromosome 18 gene dosage map 2.0
Human Genetics, 2018Co-Authors: Jannine D. Cody, Minire Hasi-zogaj, Patricia Heard, Annice Hill, David Rupert, Courtney Sebold, Daniel E. HaleAbstract:In 2009, we described the first generation of the Chromosome 18 gene dosage maps. This tool included the annotation of each gene as well as each phenotype associated region. The goal of these annotated genetic maps is to provide clinicians with a tool to appreciate the potential clinical impact of a Chromosome 18 deletion or duplication. These maps are continually updated with the most recent and relevant data regarding Chromosome 18. Over the course of the past decade, there have also been advances in our understanding of the molecular mechanisms underpinning genetic disease. Therefore, we have updated the maps to more accurately reflect this knowledge. Our Gene Dosage Map 2.0 has expanded from the gene and phenotype maps to also include a pair of maps specific to hemizygosity and suprazygosity. Moreover, we have revamped our classification from mechanistic definitions (e.g., haplosufficient, haploinsufficient) to clinically oriented classifications (e.g., risk factor, conditional, low penetrance, causal). This creates a map with gradient of classifications that more accurately represents the spectrum between the two poles of pathogenic and benign. While the data included in this manuscript are specific to Chromosome 18, they may serve as a clinically relevant model that can be applied to the rest of the genome.
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The Chromosome 18 Clinical Resource Center.
Molecular Genetics & Genomic Medicine, 2018Co-Authors: Jannine D. Cody, Minire Hasi-zogaj, Patricia Heard, Annice Hill, David Rupert, Courtney Sebold, Bridgette Soileau, Daniel E. HaleAbstract:BACKGROUND: The Chromosome 18 Clinical Research Center has created a pediatrician-friendly virtual resource center for managing patients with Chromosome 18 abnormalities. To date, children with rare Chromosome abnormalities have been cared for either symptomatically or palliatively as a reaction to the presenting medical problems. As we enter an era of genomic-informed medicine, we can provide children, even those with individually unique Chromosome abnormalities, with proactive medical care and management based on the most contemporary data on their specific genomic change. It is problematic for practicing physicians to obtain and use the emerging data on specific genes because this information is derived from diverse sources (e.g., animal studies, case reports, in vitro explorations) and is often published in sources that are not easily accessible in the clinical setting. METHODS: The Chromosome 18 Clinical Resource Center remedies this challenging problem by curating and synthesizing the data with clinical implications. The data are collected from our database of over 26 years of natural history and medical data from over 650 individuals with Chromosome 18 abnormalities. RESULTS: The resulting management guides and video presentations are a first edition of this collated data specifically oriented to guide clinicians toward the optimization of care for each child. CONCLUSION: The Chromosome 18 data and guides also serve as models for an approach to the management of any individual with a rare Chromosome abnormality of which there are over 1,300 born every year in the US alone.
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Adults with Chromosome 18 Abnormalities
Journal of Genetic Counseling, 2014Co-Authors: Bridgette Soileau, Annice Hill, Courtney Sebold, Daniel E. Hale, Minire Hasi, Louise O'donnell, Jannine D. CodyAbstract:The identification of an underlying Chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child' sf uture. In the case of rare Chromosome conditions, a lack of longitu- dinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with Chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rear- rangement involving other Chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral pheno- type of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chro- mosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child.
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psychiatric syndromes in individuals with Chromosome 18 abnormalities
American Journal of Medical Genetics, 2009Co-Authors: Juan Zavala, Jannine D. Cody, Patricia Heard, Daniel E. Hale, Mercedes Ramirez, Rolando Medina, Erika Carter, Analisa C Crandall, Michael EscamillaAbstract:Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of Chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of Chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the Chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the Chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the Chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the Chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions. © 2009 Wiley-Liss, Inc.
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a gene dosage map of Chromosome 18 a map with clinical utility
Genetics in Medicine, 2009Co-Authors: Jannine D. Cody, Patricia Heard, Courtney Sebold, Erika Carter, Daniel E. HaleAbstract:Purpose: Microarray technology has revolutionized the field of clinical genetics with the ability to detect very small copy number changes. However, challenges remain in linking genotype with phenotype. Our goal is to enable a clinical geneticist to align the molecular karyotype information from an individual patient with the annotated genomic content, so as to provide a clinical prognosis. Methods: We have combined data regarding copy number variations, microdeletion syndromes, and classical Chromosome abnormalities, with the sparse but growing knowledge about the biological role of specific genes to create a genomic map of Chromosome 18 with clinical utility. Results: We have created a draft model of such a map, drawing from our long-standing interest in and data regarding the abnormalities of Chromosome 18. Conclusion: We have taken the first step toward creating a genomic map that can be used by the clinician in counseling and directing preventive or symptomatic care of individuals with Chromosome 18 abnormalities.
Melvin G. Mcinnis - One of the best experts on this subject based on the ideXlab platform.
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Characterization of CTG/CAG repeats on Chromosome 18: a study of bipolar disorder.
Psychiatric Genetics, 2005Co-Authors: Theresa Swift-scanlan, Jennifer Coughlin, James B. Potash, Roxann G. Ingersoll, Raymond J. Depaulo, Christopher A. Ross, Melvin G. McinnisAbstract:: Anticipation has been frequently found in bipolar families ascertained for linkage studies. An association of polymorphic triplet repeats with the bipolar phenotype in some pedigrees has been proposed. We have previously found linkage to Chromosome 18 in a set of families with evidence of anticipation. As part of a search for CAG/CTG motifs on Chromosome 18, we screened a genomic Chromosome 18 cosmid library and identified 65 loci with trinucleotide repeats. Eleven of 33 genotyped loci were polymorphic, though none of these showed any evidence of instability. We performed genetic analysis of six loci in the Hopkins/Dana bipolar pedigrees ascertained for a genetic linkage study of bipolar disorder and found that the CAG repeat within the AD4D2 clone on 18q21.1 showed nominally significant over-transmission of the rare CAG23 allele (P=0.034). We have characterized all 65 trinucleotide repeats and flanking sequences with GENSCAN analysis and find that 29 were predicted to be in coding regions. These 29 trinucleotide-repeat-containing genes may be involved in functional modulation of their respective proteins, and may be candidates for other diseases or disease mechanisms that map to this region.
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trapping and sequence analysis of 1138 putative exons from human Chromosome 18
Molecular Psychiatry, 2003Co-Authors: H Chen, Francis J. Mcmahon, James B. Potash, Raymond J. Depaulo, Christopher A. Ross, Dean F Mackinnon, N Wang, Pamela Sklar, Stylianos E Antonarakis, Melvin G. McinnisAbstract:In a search for novel genes on Chromosome 18 (HC18), on which several regions have been linked to bipolar disorder, we applied exon trapping to HC18-specific cosmids. Among the 1138 exons trapped, 1052 of them have been mapped to HC18, and the remaining 86 have not been localized. No exons were localized to genomic regions other than HC18. BLAST database search revealed that 190 exons were identical to 98 Unigenes on HC18; 98 identical to additional 82 clusters of ESTs not present in the HC18 Unigene set; 39 homologous to genes from human and other species (e<10(-3)); and the remaining 811 exons had no significant homology to transcripts in public databases. The mapped exons were compared to the 867 annotated genes on HC18 in the Celera databases; 216 exons were identical to 104 Celera 'genes' and the remaining 836 exons were not found in the Celera databases. On average, there were two exons for a matched transcript (known genes and ESTs). Therefore, the 850 novel exons may represent hundreds of novel genes on Chromosome 18.
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linkage of bipolar affective disorder to Chromosome 18 markers in a new pedigree series
American Journal of Human Genetics, 1997Co-Authors: Francis J. Mcmahon, Melvin G. Mcinnis, Penelope J Hopkins, Jianfeng Xu, Sarah Shaw, Lon R Cardon, Sylvia G Simpson, Dean F Mackinnon, Colin O Stine, Robin SherringtonAbstract:Several groups have reported evidence suggesting linkage of bipolar affective disorder (BPAD) to Chromosome 18. We have reported data from 28 pedigrees that showed linkage to marker loci on 18p and to loci 40 cM distant on 18q. Most of the linkage evidence derived from families with affected phenotypes in only the paternal lineage and from marker alleles transmitted on the paternal Chromosome. We now report results from a series of 30 new pedigrees (259 individuals) genotyped for 13 polymorphic markers spanning Chromosome 18. Subjects were interviewed by a psychiatrist and were diagnosed by highly reliable methods. Genotypes were generated with automated technology and were scored blind to phenotype. Affected sib pairs showed excess allele sharing at the 18q markers D18S541 and D18S38. A parent-of-origin effect was observed, but it was not consistently paternal. No robust evidence of linkage was detected for markers elsewhere on Chromosome 18. Multipoint nonparametric linkage analysis in the new sample combined with the original sample of families supports linkage on Chromosome 18q, but the susceptibility gene is not well localized.
Michael Escamilla - One of the best experts on this subject based on the ideXlab platform.
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Psychiatric syndromes in individuals with Chromosome 18 abnormalities.
American journal of medical genetics. Part B Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2010Co-Authors: Juan Zavala, Patricia Heard, Mercedes Ramirez, Rolando Medina, Erika Carter, Analisa Crandall, Daniel Hale, Jannine Cody, Michael EscamillaAbstract:Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of Chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of Chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the Chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the Chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the Chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the Chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions.
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psychiatric syndromes in individuals with Chromosome 18 abnormalities
American Journal of Medical Genetics, 2009Co-Authors: Juan Zavala, Jannine D. Cody, Patricia Heard, Daniel E. Hale, Mercedes Ramirez, Rolando Medina, Erika Carter, Analisa C Crandall, Michael EscamillaAbstract:Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of Chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of Chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the Chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the Chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the Chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the Chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions. © 2009 Wiley-Liss, Inc.