Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient
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Mendeley | Further Information

{"title"=>"Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient", "type"=>"journal", "authors"=>[{"first_name"=>"Danielle", "last_name"=>"Veenma", "scopus_author_id"=>"26424010600"}, {"first_name"=>"Niels", "last_name"=>"Beurskens", "scopus_author_id"=>"19638709400"}, {"first_name"=>"Hannie", "last_name"=>"Douben", "scopus_author_id"=>"16038691800"}, {"first_name"=>"Bert", "last_name"=>"Eussen", "scopus_author_id"=>"6601995217"}, {"first_name"=>"Petra", "last_name"=>"Noomen", "scopus_author_id"=>"8077739700"}, {"first_name"=>"Lutgarde", "last_name"=>"Govaerts", "scopus_author_id"=>"6701430586"}, {"first_name"=>"Els", "last_name"=>"Grijseels", "scopus_author_id"=>"6602939748"}, {"first_name"=>"Maarten", "last_name"=>"Lequin", "scopus_author_id"=>"7004256905"}, {"first_name"=>"Ronald", "last_name"=>"de Krijger", "scopus_author_id"=>"7003987064"}, {"first_name"=>"Dick", "last_name"=>"Tibboel", "scopus_author_id"=>"7101632209"}, {"first_name"=>"Annelies", "last_name"=>"de Klein", "scopus_author_id"=>"55913708300"}, {"first_name"=>"Dian", "last_name"=>"van Opstal", "scopus_author_id"=>"6701812440"}], "year"=>2010, "source"=>"PLoS ONE", "identifiers"=>{"pmid"=>"21203572", "scopus"=>"2-s2.0-78650967248", "sgr"=>"78650967248", "doi"=>"10.1371/journal.pone.0015348", "pui"=>"361059663", "issn"=>"19326203", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)"}, "id"=>"dd8f0d6c-94b7-3742-a4c6-3056fa425e97", "abstract"=>"In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12). High-resolution whole genome SNP array confirmed a low-level mosaicism (20%) in uncultured cells, underlining the value of array technology for identification studies. Subsequently, targeted Fluorescence In-Situ Hybridization in postmortem collected tissues demonstrated a similar low-level mosaicism, independently of the affected status of the tissue. Thus, a higher incidence of the genetic aberration in affected organs as lung and diaphragm cannot explain the severe phenotype of this complex CDH patient. Comparison with other described chromosome 5p and 12p anomalies indicated that half of the features presented in our patient (including the diaphragm defect) could be attributed to both chromosomal areas. In contrast, a few features such as the palpebral downslant, the broad nasal bridge, the micrognathia, microcephaly, abnormal dermatoglyphics and IUGR better fitted the 5p associated syndromes only. This study underlines the fact that low-level mosaicism can be associated with severe birth defects including CDH. The contribution of mosaicism to human diseases and specifically to congenital anomalies and spontaneous abortions becomes more and more accepted, although its phenotypic consequences are poorly described phenomena leading to counseling issues. Therefore, thorough follow-up of mosaic aberrations such as presented here is indicated in order to provide genetic counselors a more evidence based prediction of fetal prognosis in the future.", "link"=>"http://www.mendeley.com/research/comparable-lowlevel-mosaicism-affected-non-affected-tissue-complex-cdh-patient", "reader_count"=>11, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Professor > Associate Professor"=>2, "Researcher"=>2, "Student > Postgraduate"=>3, "Student > Master"=>1, "Professor"=>2}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Professor > Associate Professor"=>2, "Researcher"=>2, "Student > Postgraduate"=>3, "Student > Master"=>1, "Professor"=>2}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Biochemistry, Genetics and Molecular Biology"=>1, "Agricultural and Biological Sciences"=>5, "Medicine and Dentistry"=>3}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>3}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>1}, "Unspecified"=>{"Unspecified"=>2}}, "reader_count_by_country"=>{"Sri Lanka"=>1, "Australia"=>1}, "group_count"=>0}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/811593"], "description"=>"<p>AF: Amniotic Fluid, AF-c: Amniotic Fluid-cultured.</p><p>DER: skin, FUM: Fibroblast culture UMbilical cord.</p><p>UC-bl: Umbilical Cord Blood;</p><p>*metaphase.</p>", "links"=>[], "tags"=>["mosaicism", "molecular", "cytogenetic"], "article_id"=>481952, "categories"=>["Developmental Biology", "Cell Biology", "Genetics", "Medicine"], "users"=>["Danielle Veenma", "Niels Beurskens", "Hannie Douben", "Bert Eussen", "Petra Noomen", "Lutgarde Govaerts", "Els Grijseels", "Maarten Lequin", "Ronald de Krijger", "Dick Tibboel", "Annelies de Klein", "Dian Van Opstal"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0015348.t001", "stats"=>{"downloads"=>1, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Detection_of_mosaicism_using_molecular_cytogenetic_studies_/481952", "title"=>"Detection of mosaicism using molecular cytogenetic studies.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2010-12-21 00:32:32"}
  • {"files"=>["https://ndownloader.figshare.com/files/811312"], "description"=>"<p>A: Whole genome array: Log2 intensity (Top) and B-Allele Frequencies BAF (Bottom). Top: Y-axis: Relative Copy Number State. X-axis: autosomes number 1–22 and the two sex chromosomes. Displayed are the relative and normalized log2 intensities of all available SNPs on the array across the patients' genome. At the beginning of chromosome 5 a slight drop of log2 intensity is visible representing the deletion of part of the short arm of chromosome 5 in a low-mosaic state. Similarly, the mosaic 12p duplication is depicted as a small peak of log2 intensity at the beginning of chromosome 12. Bottom: confirmation of aberrations by the more clearly visible changes in BAF. B: Enlarged views of the results of chromosome 5 (left) and 12 (right) showing both the log2 intensity window as well as the BAF results.</p>", "links"=>[], "tags"=>["high-resolution", "snp", "uncultured", "umbilical"], "article_id"=>481668, "categories"=>["Developmental Biology", "Cell Biology", "Genetics", "Medicine"], "users"=>["Danielle Veenma", "Niels Beurskens", "Hannie Douben", "Bert Eussen", "Petra Noomen", "Lutgarde Govaerts", "Els Grijseels", "Maarten Lequin", "Ronald de Krijger", "Dick Tibboel", "Annelies de Klein", "Dian Van Opstal"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0015348.g001", "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Results_High_resolution_SNP_array_using_uncultured_umbilical_cord_blood_material_/481668", "title"=>"Results High-resolution SNP array using uncultured umbilical cord blood material.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2010-12-21 00:27:48"}
  • {"files"=>["https://ndownloader.figshare.com/files/811481"], "description"=>"<p>A: Left: Schematic representation of the unbalanced der(5)t(5;12)(p13.2;p12.3) and its normal chromosome 12 counterpart. Right: Partial Karyotype of the patient showing both the normal and abnormal chromosome 5 and both normal chromosomes 12. B: Fluorescent In-Situ Hybridization (FISH) on a metaphase spread of 1 umbilical cord-fibroblast-cell presenting 1 copy of BAC clone RP11-7M4 (Green) on the normal chromosome 5 and 3 of clone RP11-62P15 (red) on both chromosomes 12 and the der(5) C: Whole-Chromosome Paint FISH results of 1 AF-cell showing duplication of part of the short arm of chromosome 12 (WCP12: red) at the expense of part of 1 copy of chromosome 5 (WCP5:green).</p>", "links"=>[], "tags"=>["in-situ", "hybridization", "cultured", "amniotic"], "article_id"=>481835, "categories"=>["Developmental Biology", "Cell Biology", "Genetics", "Medicine"], "users"=>["Danielle Veenma", "Niels Beurskens", "Hannie Douben", "Bert Eussen", "Petra Noomen", "Lutgarde Govaerts", "Els Grijseels", "Maarten Lequin", "Ronald de Krijger", "Dick Tibboel", "Annelies de Klein", "Dian Van Opstal"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0015348.g002", "stats"=>{"downloads"=>1, "page_views"=>2, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Fluorescent_In_Situ_Hybridization_results_using_cultured_amniotic_fluid_and_skin_material_/481835", "title"=>"Fluorescent In-Situ Hybridization results using cultured amniotic fluid and skin material.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2010-12-21 00:30:35"}
  • {"files"=>["https://ndownloader.figshare.com/files/404574", "https://ndownloader.figshare.com/files/404592"], "description"=>"<div><p>In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12). High-resolution whole genome SNP array confirmed a low-level mosaicism (20%) in uncultured cells, underlining the value of array technology for identification studies. Subsequently, targeted Fluorescence In-Situ Hybridization in postmortem collected tissues demonstrated a similar low-level mosaicism, independently of the affected status of the tissue. Thus, a higher incidence of the genetic aberration in affected organs as lung and diaphragm cannot explain the severe phenotype of this complex CDH patient. Comparison with other described chromosome 5p and 12p anomalies indicated that half of the features presented in our patient (including the diaphragm defect) could be attributed to both chromosomal areas. In contrast, a few features such as the palpebral downslant, the broad nasal bridge, the micrognathia, microcephaly, abnormal dermatoglyphics and IUGR better fitted the 5p associated syndromes only. This study underlines the fact that low-level mosaicism can be associated with severe birth defects including CDH. The contribution of mosaicism to human diseases and specifically to congenital anomalies and spontaneous abortions becomes more and more accepted, although its phenotypic consequences are poorly described phenomena leading to counseling issues. Therefore, thorough follow–up of mosaic aberrations such as presented here is indicated in order to provide genetic counselors a more evidence based prediction of fetal prognosis in the future.</p> </div>", "links"=>[], "tags"=>["low-level", "mosaicism", "affected", "non", "cdh"], "article_id"=>139948, "categories"=>["Developmental Biology", "Cell Biology", "Genetics", "Medicine"], "users"=>["Danielle Veenma", "Niels Beurskens", "Hannie Douben", "Bert Eussen", "Petra Noomen", "Lutgarde Govaerts", "Els Grijseels", "Maarten Lequin", "Ronald de Krijger", "Dick Tibboel", "Annelies de Klein", "Dian Van Opstal"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0015348.s001", "https://dx.doi.org/10.1371/journal.pone.0015348.s002"], "stats"=>{"downloads"=>1, "page_views"=>19, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Comparable_Low_Level_Mosaicism_in_Affected_and_Non_Affected_Tissue_of_a_Complex_CDH_Patient/139948", "title"=>"Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2010-12-21 02:45:48"}

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Relative Metric

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