Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-12

AUTHORS

Art Daniel, Luke St Heaps, Dianne Sylvester, Sara Diaz, Gregory Peters

ABSTRACT

OBJECTIVE: To elucidate the structure of terminal inverted duplications and to investigate potential mechanisms of formation in two cases where there was mosaicism with cells of apparently normal karyotype. RESULTS: A karyotype [46,XY,inv dup(4)(p16.3p15.1)/46,XY] performed on blood lymphocytes from a patient referred for developmental delay (case 1) demonstrated a normal karyotype in 60% of cells with a terminal inverted duplication 4p in the remainder. In case 2, referred for multiple fetal anomalies on an ultrasound scan, 33% of amniocyte colonies were karyotypically normal, with a terminal inv dup 10p in the remainder [46,XX,inv dup(10)(p15.3p11)/46,XX]. Duplicated FISH signals for GATA3 and NEBL loci (in case 2), and for the Wolf-Hirschhorn locus (case 1) confirmed the inverted structure of both duplications. In the GTL banded normal cells from both cases, there was a cryptic deletion detected by FISH of one copy of the subtelomere 4p (case 1, probe GS-36P21), and subtelomere 10p (case 2, probe GS-306F7). At pter on both inv dup chromosomes there was no FISH signal present for the specific subtelomere probe. However, a positive pantelomeric probe signal was detected at 4 pter and 10 pter in both the cryptically-deleted chromosomes and the inv dup chromosomes in the respective cell lines of both cases. CONCLUSION: An inv dup structure was evident for both cases on GTL bands, and confirmed by the various FISH studies. The presence of telomere (TTAGGG repeat) sequences at pter on the inv dup chromosomes (where more proximal chromosome specific subtelomeric probes were negative) was indicated by the pantelomeric probe signals in both cases. We conclude the most likely mechanism of origin in both cases was by sub-telomeric breakage in the zygote at pter, and delayed repair/rearrangement until after one or more subsequent mitotic divisions. In these divisions, at least one breakage-fusion-bridge cycle occurred, to produce inverted duplications. It is proposed then that two differently "repaired" daughter cells proliferated in parallel. In one daughter cell line (with an overtly normal karyotype) there was deletion of the subtelomere and presumed repair through capping by a neo-telomere (i.e. "healing", as initially proposed by McClintock). This occurred in both cases presented. In the other daughter cell of each case, it is proposed that chromosome stabilization was achieved (after replication) by sister chromatid reunion to form a dicentric, which broke at a subsequent anaphase, to form an inverted duplication (with loss of the reciprocal product, and the other daughter cell line). One inv dup was repaired without an interstitial specific subtelomere (case 1) and one was repaired with a duplicated specific interstitial subtelomere (case 2). After repair TTAGGG repeats were detected by FISH at each respective new pter. More... »

PAGES

1

References to SciGraph publications

Journal

TITLE

Cell & Chromosome

ISSUE

1

VOLUME

7

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1475-9268-7-1

DOI

http://dx.doi.org/10.1186/1475-9268-7-1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1043324760

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18331649


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Children's Hospital at Westmead", 
          "id": "https://www.grid.ac/institutes/grid.413973.b", 
          "name": [
            "Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, 2145, NSW, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Daniel", 
        "givenName": "Art", 
        "id": "sg:person.01157417711.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157417711.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital at Westmead", 
          "id": "https://www.grid.ac/institutes/grid.413973.b", 
          "name": [
            "Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, 2145, NSW, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "St Heaps", 
        "givenName": "Luke", 
        "id": "sg:person.01027430015.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027430015.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital at Westmead", 
          "id": "https://www.grid.ac/institutes/grid.413973.b", 
          "name": [
            "Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, 2145, NSW, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sylvester", 
        "givenName": "Dianne", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital at Westmead", 
          "id": "https://www.grid.ac/institutes/grid.413973.b", 
          "name": [
            "Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, 2145, NSW, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Diaz", 
        "givenName": "Sara", 
        "id": "sg:person.01143656415.93", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143656415.93"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital at Westmead", 
          "id": "https://www.grid.ac/institutes/grid.413973.b", 
          "name": [
            "Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, 2145, NSW, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Peters", 
        "givenName": "Gregory", 
        "id": "sg:person.0653647214.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653647214.00"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1136/jmg.40.8.e93", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002799452"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19970110)68:1<76::aid-ajmg15>3.0.co;2-l", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009485943"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.37.4.281", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013208545"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2006.045476", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013927642"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000015478", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014782856"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1520-6408(1996)18:2<173::aid-dvg10>3.0.co;2-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022064153"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.23.3.258", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025519027"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/pd.1095", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028232016"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200217", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029854717", 
          "https://doi.org/10.1038/sj.ejhg.5200217"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200217", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029854717", 
          "https://doi.org/10.1038/sj.ejhg.5200217"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320360221", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031930228"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320360221", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031930228"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5201240", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032692531", 
          "https://doi.org/10.1038/sj.ejhg.5201240"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5201240", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032692531", 
          "https://doi.org/10.1038/sj.ejhg.5201240"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320580402", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032744728"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320580402", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032744728"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000015339", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037994226"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.leu.2401108", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038268698", 
          "https://doi.org/10.1038/sj.leu.2401108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.leu.2401108", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038268698", 
          "https://doi.org/10.1038/sj.leu.2401108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004120000103", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044914893", 
          "https://doi.org/10.1007/s004120000103"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.onc.1204767", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047753332", 
          "https://doi.org/10.1038/sj.onc.1204767"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.onc.1204767", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047753332", 
          "https://doi.org/10.1038/sj.onc.1204767"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddg231", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049522303"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/1096-8628(20010722)102:1<76::aid-ajmg1389>3.0.co;2-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050910186"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.20208", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051673999"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302998", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610544"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1667/0033-7587(2001)155[0194:alotih]2.0.co;2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1068194489"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082688811", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2008-12", 
    "datePublishedReg": "2008-12-01", 
    "description": "OBJECTIVE: To elucidate the structure of terminal inverted duplications and to investigate potential mechanisms of formation in two cases where there was mosaicism with cells of apparently normal karyotype.\nRESULTS: A karyotype [46,XY,inv dup(4)(p16.3p15.1)/46,XY] performed on blood lymphocytes from a patient referred for developmental delay (case 1) demonstrated a normal karyotype in 60% of cells with a terminal inverted duplication 4p in the remainder. In case 2, referred for multiple fetal anomalies on an ultrasound scan, 33% of amniocyte colonies were karyotypically normal, with a terminal inv dup 10p in the remainder [46,XX,inv dup(10)(p15.3p11)/46,XX]. Duplicated FISH signals for GATA3 and NEBL loci (in case 2), and for the Wolf-Hirschhorn locus (case 1) confirmed the inverted structure of both duplications. In the GTL banded normal cells from both cases, there was a cryptic deletion detected by FISH of one copy of the subtelomere 4p (case 1, probe GS-36P21), and subtelomere 10p (case 2, probe GS-306F7). At pter on both inv dup chromosomes there was no FISH signal present for the specific subtelomere probe. However, a positive pantelomeric probe signal was detected at 4 pter and 10 pter in both the cryptically-deleted chromosomes and the inv dup chromosomes in the respective cell lines of both cases.\nCONCLUSION: An inv dup structure was evident for both cases on GTL bands, and confirmed by the various FISH studies. The presence of telomere (TTAGGG repeat) sequences at pter on the inv dup chromosomes (where more proximal chromosome specific subtelomeric probes were negative) was indicated by the pantelomeric probe signals in both cases. We conclude the most likely mechanism of origin in both cases was by sub-telomeric breakage in the zygote at pter, and delayed repair/rearrangement until after one or more subsequent mitotic divisions. In these divisions, at least one breakage-fusion-bridge cycle occurred, to produce inverted duplications. It is proposed then that two differently \"repaired\" daughter cells proliferated in parallel. In one daughter cell line (with an overtly normal karyotype) there was deletion of the subtelomere and presumed repair through capping by a neo-telomere (i.e. \"healing\", as initially proposed by McClintock). This occurred in both cases presented. In the other daughter cell of each case, it is proposed that chromosome stabilization was achieved (after replication) by sister chromatid reunion to form a dicentric, which broke at a subsequent anaphase, to form an inverted duplication (with loss of the reciprocal product, and the other daughter cell line). One inv dup was repaired without an interstitial specific subtelomere (case 1) and one was repaired with a duplicated specific interstitial subtelomere (case 2). After repair TTAGGG repeats were detected by FISH at each respective new pter.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/1475-9268-7-1", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1031022", 
        "issn": [
          "1475-9268"
        ], 
        "name": "Cell & Chromosome", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "7"
      }
    ], 
    "name": "Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres", 
    "pagination": "1", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "ce5f854710227fed638cb207a166bf8ff36dc6c81434b5f9fbb9d31d18355a4e"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "18331649"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101147638"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/1475-9268-7-1"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1043324760"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/1475-9268-7-1", 
      "https://app.dimensions.ai/details/publication/pub.1043324760"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T19:58", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8681_00000515.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1186%2F1475-9268-7-1"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1475-9268-7-1'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1475-9268-7-1'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1475-9268-7-1'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1475-9268-7-1'


 

This table displays all metadata directly associated to this object as RDF triples.

165 TRIPLES      21 PREDICATES      51 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/1475-9268-7-1 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N18432703d69043abbaf78eda7917ab91
4 schema:citation sg:pub.10.1007/s004120000103
5 sg:pub.10.1038/sj.ejhg.5200217
6 sg:pub.10.1038/sj.ejhg.5201240
7 sg:pub.10.1038/sj.leu.2401108
8 sg:pub.10.1038/sj.onc.1204767
9 https://app.dimensions.ai/details/publication/pub.1082688811
10 https://doi.org/10.1002/(sici)1096-8628(19970110)68:1<76::aid-ajmg15>3.0.co;2-l
11 https://doi.org/10.1002/(sici)1520-6408(1996)18:2<173::aid-dvg10>3.0.co;2-3
12 https://doi.org/10.1002/1096-8628(20010722)102:1<76::aid-ajmg1389>3.0.co;2-4
13 https://doi.org/10.1002/ajmg.1320360221
14 https://doi.org/10.1002/ajmg.1320580402
15 https://doi.org/10.1002/ajmg.a.20208
16 https://doi.org/10.1002/pd.1095
17 https://doi.org/10.1086/302998
18 https://doi.org/10.1093/hmg/ddg231
19 https://doi.org/10.1136/jmg.2006.045476
20 https://doi.org/10.1136/jmg.23.3.258
21 https://doi.org/10.1136/jmg.37.4.281
22 https://doi.org/10.1136/jmg.40.8.e93
23 https://doi.org/10.1159/000015339
24 https://doi.org/10.1159/000015478
25 https://doi.org/10.1667/0033-7587(2001)155[0194:alotih]2.0.co;2
26 schema:datePublished 2008-12
27 schema:datePublishedReg 2008-12-01
28 schema:description OBJECTIVE: To elucidate the structure of terminal inverted duplications and to investigate potential mechanisms of formation in two cases where there was mosaicism with cells of apparently normal karyotype. RESULTS: A karyotype [46,XY,inv dup(4)(p16.3p15.1)/46,XY] performed on blood lymphocytes from a patient referred for developmental delay (case 1) demonstrated a normal karyotype in 60% of cells with a terminal inverted duplication 4p in the remainder. In case 2, referred for multiple fetal anomalies on an ultrasound scan, 33% of amniocyte colonies were karyotypically normal, with a terminal inv dup 10p in the remainder [46,XX,inv dup(10)(p15.3p11)/46,XX]. Duplicated FISH signals for GATA3 and NEBL loci (in case 2), and for the Wolf-Hirschhorn locus (case 1) confirmed the inverted structure of both duplications. In the GTL banded normal cells from both cases, there was a cryptic deletion detected by FISH of one copy of the subtelomere 4p (case 1, probe GS-36P21), and subtelomere 10p (case 2, probe GS-306F7). At pter on both inv dup chromosomes there was no FISH signal present for the specific subtelomere probe. However, a positive pantelomeric probe signal was detected at 4 pter and 10 pter in both the cryptically-deleted chromosomes and the inv dup chromosomes in the respective cell lines of both cases. CONCLUSION: An inv dup structure was evident for both cases on GTL bands, and confirmed by the various FISH studies. The presence of telomere (TTAGGG repeat) sequences at pter on the inv dup chromosomes (where more proximal chromosome specific subtelomeric probes were negative) was indicated by the pantelomeric probe signals in both cases. We conclude the most likely mechanism of origin in both cases was by sub-telomeric breakage in the zygote at pter, and delayed repair/rearrangement until after one or more subsequent mitotic divisions. In these divisions, at least one breakage-fusion-bridge cycle occurred, to produce inverted duplications. It is proposed then that two differently "repaired" daughter cells proliferated in parallel. In one daughter cell line (with an overtly normal karyotype) there was deletion of the subtelomere and presumed repair through capping by a neo-telomere (i.e. "healing", as initially proposed by McClintock). This occurred in both cases presented. In the other daughter cell of each case, it is proposed that chromosome stabilization was achieved (after replication) by sister chromatid reunion to form a dicentric, which broke at a subsequent anaphase, to form an inverted duplication (with loss of the reciprocal product, and the other daughter cell line). One inv dup was repaired without an interstitial specific subtelomere (case 1) and one was repaired with a duplicated specific interstitial subtelomere (case 2). After repair TTAGGG repeats were detected by FISH at each respective new pter.
29 schema:genre research_article
30 schema:inLanguage en
31 schema:isAccessibleForFree true
32 schema:isPartOf N4bd16f6b30e2495caabb6501a605a0ea
33 N87e2efbd58d245a582b4caa7d28ff5cd
34 sg:journal.1031022
35 schema:name Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres
36 schema:pagination 1
37 schema:productId N1bb03d148c674a758a85e620898962bb
38 N2f52c49e0a7641d5bdde1fcb5ceb9259
39 N52cef512e5d64c3db4b79786df5a921b
40 N56f4c71e113d491aa989146ce3427b5b
41 Nf06d5c2cc61c4b158891aef3e2f807c0
42 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043324760
43 https://doi.org/10.1186/1475-9268-7-1
44 schema:sdDatePublished 2019-04-10T19:58
45 schema:sdLicense https://scigraph.springernature.com/explorer/license/
46 schema:sdPublisher Nfa991f8ffe134871a624abad8e69862d
47 schema:url http://link.springer.com/10.1186%2F1475-9268-7-1
48 sgo:license sg:explorer/license/
49 sgo:sdDataset articles
50 rdf:type schema:ScholarlyArticle
51 N18432703d69043abbaf78eda7917ab91 rdf:first sg:person.01157417711.14
52 rdf:rest Nbfac1b22713d4c10823c062a191df2d0
53 N1bb03d148c674a758a85e620898962bb schema:name nlm_unique_id
54 schema:value 101147638
55 rdf:type schema:PropertyValue
56 N22e5afff3b704f75a009d34d4e2d5ba0 schema:affiliation https://www.grid.ac/institutes/grid.413973.b
57 schema:familyName Sylvester
58 schema:givenName Dianne
59 rdf:type schema:Person
60 N2f52c49e0a7641d5bdde1fcb5ceb9259 schema:name readcube_id
61 schema:value ce5f854710227fed638cb207a166bf8ff36dc6c81434b5f9fbb9d31d18355a4e
62 rdf:type schema:PropertyValue
63 N4bd16f6b30e2495caabb6501a605a0ea schema:issueNumber 1
64 rdf:type schema:PublicationIssue
65 N52cef512e5d64c3db4b79786df5a921b schema:name doi
66 schema:value 10.1186/1475-9268-7-1
67 rdf:type schema:PropertyValue
68 N54589971839e4bb081ad1e36c7674184 rdf:first sg:person.01143656415.93
69 rdf:rest N633dd783c256489bb5dbef0deb716990
70 N56f4c71e113d491aa989146ce3427b5b schema:name pubmed_id
71 schema:value 18331649
72 rdf:type schema:PropertyValue
73 N633dd783c256489bb5dbef0deb716990 rdf:first sg:person.0653647214.00
74 rdf:rest rdf:nil
75 N87e2efbd58d245a582b4caa7d28ff5cd schema:volumeNumber 7
76 rdf:type schema:PublicationVolume
77 Nba6b839befd14737995fdc07ed059d13 rdf:first N22e5afff3b704f75a009d34d4e2d5ba0
78 rdf:rest N54589971839e4bb081ad1e36c7674184
79 Nbfac1b22713d4c10823c062a191df2d0 rdf:first sg:person.01027430015.77
80 rdf:rest Nba6b839befd14737995fdc07ed059d13
81 Nf06d5c2cc61c4b158891aef3e2f807c0 schema:name dimensions_id
82 schema:value pub.1043324760
83 rdf:type schema:PropertyValue
84 Nfa991f8ffe134871a624abad8e69862d schema:name Springer Nature - SN SciGraph project
85 rdf:type schema:Organization
86 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
87 schema:name Biological Sciences
88 rdf:type schema:DefinedTerm
89 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
90 schema:name Genetics
91 rdf:type schema:DefinedTerm
92 sg:journal.1031022 schema:issn 1475-9268
93 schema:name Cell & Chromosome
94 rdf:type schema:Periodical
95 sg:person.01027430015.77 schema:affiliation https://www.grid.ac/institutes/grid.413973.b
96 schema:familyName St Heaps
97 schema:givenName Luke
98 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027430015.77
99 rdf:type schema:Person
100 sg:person.01143656415.93 schema:affiliation https://www.grid.ac/institutes/grid.413973.b
101 schema:familyName Diaz
102 schema:givenName Sara
103 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01143656415.93
104 rdf:type schema:Person
105 sg:person.01157417711.14 schema:affiliation https://www.grid.ac/institutes/grid.413973.b
106 schema:familyName Daniel
107 schema:givenName Art
108 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01157417711.14
109 rdf:type schema:Person
110 sg:person.0653647214.00 schema:affiliation https://www.grid.ac/institutes/grid.413973.b
111 schema:familyName Peters
112 schema:givenName Gregory
113 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653647214.00
114 rdf:type schema:Person
115 sg:pub.10.1007/s004120000103 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044914893
116 https://doi.org/10.1007/s004120000103
117 rdf:type schema:CreativeWork
118 sg:pub.10.1038/sj.ejhg.5200217 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029854717
119 https://doi.org/10.1038/sj.ejhg.5200217
120 rdf:type schema:CreativeWork
121 sg:pub.10.1038/sj.ejhg.5201240 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032692531
122 https://doi.org/10.1038/sj.ejhg.5201240
123 rdf:type schema:CreativeWork
124 sg:pub.10.1038/sj.leu.2401108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038268698
125 https://doi.org/10.1038/sj.leu.2401108
126 rdf:type schema:CreativeWork
127 sg:pub.10.1038/sj.onc.1204767 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047753332
128 https://doi.org/10.1038/sj.onc.1204767
129 rdf:type schema:CreativeWork
130 https://app.dimensions.ai/details/publication/pub.1082688811 schema:CreativeWork
131 https://doi.org/10.1002/(sici)1096-8628(19970110)68:1<76::aid-ajmg15>3.0.co;2-l schema:sameAs https://app.dimensions.ai/details/publication/pub.1009485943
132 rdf:type schema:CreativeWork
133 https://doi.org/10.1002/(sici)1520-6408(1996)18:2<173::aid-dvg10>3.0.co;2-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022064153
134 rdf:type schema:CreativeWork
135 https://doi.org/10.1002/1096-8628(20010722)102:1<76::aid-ajmg1389>3.0.co;2-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050910186
136 rdf:type schema:CreativeWork
137 https://doi.org/10.1002/ajmg.1320360221 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031930228
138 rdf:type schema:CreativeWork
139 https://doi.org/10.1002/ajmg.1320580402 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032744728
140 rdf:type schema:CreativeWork
141 https://doi.org/10.1002/ajmg.a.20208 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051673999
142 rdf:type schema:CreativeWork
143 https://doi.org/10.1002/pd.1095 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028232016
144 rdf:type schema:CreativeWork
145 https://doi.org/10.1086/302998 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610544
146 rdf:type schema:CreativeWork
147 https://doi.org/10.1093/hmg/ddg231 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049522303
148 rdf:type schema:CreativeWork
149 https://doi.org/10.1136/jmg.2006.045476 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013927642
150 rdf:type schema:CreativeWork
151 https://doi.org/10.1136/jmg.23.3.258 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025519027
152 rdf:type schema:CreativeWork
153 https://doi.org/10.1136/jmg.37.4.281 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013208545
154 rdf:type schema:CreativeWork
155 https://doi.org/10.1136/jmg.40.8.e93 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002799452
156 rdf:type schema:CreativeWork
157 https://doi.org/10.1159/000015339 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037994226
158 rdf:type schema:CreativeWork
159 https://doi.org/10.1159/000015478 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014782856
160 rdf:type schema:CreativeWork
161 https://doi.org/10.1667/0033-7587(2001)155[0194:alotih]2.0.co;2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1068194489
162 rdf:type schema:CreativeWork
163 https://www.grid.ac/institutes/grid.413973.b schema:alternateName Children's Hospital at Westmead
164 schema:name Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, 2145, NSW, Australia
165 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...