The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability: A Clinical Case Report View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-10

AUTHORS

A. S. Telepova, S. A. Romanenko, N. A. Lemskaya, Yu. V. Maksimova, A. R. Shorina, D. V. Yudkin

ABSTRACT

Marker chromosomes are structurally abnormal chromosomes that may be supernumerary in karyotype or replace one of the chromosomes. Marker chromosomes very frequently can be a cause of different pathologies, including a intellectual disability. This study considers the molecular cytogenetic analysis of an acrocentric marker chromosome in a patient with autism and a intellectual disability. With the help of the painting probe localization of human chromosomes, its origin from the pericentromeric regions of the p and q arms of chromosome 15 is shown. For more detailed detection of the region of origin of this chromosome, its microdissection following localization on both healthy control and patient metaphase plates was carried out. Its origin from the nucleolus-containing chromosome 15 is confirmed. Because of the rDNA-containing plasmid localization, two of the ribosome RNA gene clusters were detected on the patient’s chromosomes. Ag-NOR staining showed that both clusters are active. A possible contribution of the revealed chromosome pathology in clinical picture formation is discussed. More... »

PAGES

241-244

Identifiers

URI

http://scigraph.springernature.com/pub.10.3103/s0891416818040080

DOI

http://dx.doi.org/10.3103/s0891416818040080

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112467941


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": "Novosibirsk State University", 
          "id": "https://www.grid.ac/institutes/grid.4605.7", 
          "name": [
            "Institute of Molecular and Cellular Biology, Russian Academy of Sciences, Siberian Branch, 630090, Novosibirsk, Russia", 
            "Novosibirsk State University, 630090, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Telepova", 
        "givenName": "A. S.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Novosibirsk State University", 
          "id": "https://www.grid.ac/institutes/grid.4605.7", 
          "name": [
            "Institute of Molecular and Cellular Biology, Russian Academy of Sciences, Siberian Branch, 630090, Novosibirsk, Russia", 
            "Novosibirsk State University, 630090, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Romanenko", 
        "givenName": "S. A.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Russian Academy of Sciences", 
          "id": "https://www.grid.ac/institutes/grid.4886.2", 
          "name": [
            "Institute of Molecular and Cellular Biology, Russian Academy of Sciences, Siberian Branch, 630090, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lemskaya", 
        "givenName": "N. A.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Novosibirsk State Medical University", 
          "id": "https://www.grid.ac/institutes/grid.445341.3", 
          "name": [
            "Novosibirsk State Medical University, 630091, Novosibirsk, Russia", 
            "Novosibirsk City Clinical Hospital No. 1, 630047, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Maksimova", 
        "givenName": "Yu. V.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Novosibirsk City Clinical Hospital No. 1, 630047, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shorina", 
        "givenName": "A. R.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Novosibirsk State University", 
          "id": "https://www.grid.ac/institutes/grid.4605.7", 
          "name": [
            "Institute of Molecular and Cellular Biology, Russian Academy of Sciences, Siberian Branch, 630090, Novosibirsk, Russia", 
            "Novosibirsk State University, 630090, Novosibirsk, Russia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yudkin", 
        "givenName": "D. V.", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1074/jbc.m115.682161", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004167207"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2350-14-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004654887", 
          "https://doi.org/10.1186/1471-2350-14-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1755-8166-6-46", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005889496", 
          "https://doi.org/10.1186/1755-8166-6-46"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj2460519", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020473326"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj2460519", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020473326"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1096-163", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021437230", 
          "https://doi.org/10.1038/ng1096-163"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1523/jneurosci.2439-08.2008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041392505"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4103/2277-9175.161542", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042723250"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-3-30", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051896513", 
          "https://doi.org/10.1186/1750-1172-3-30"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.1994.tb11916.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053696871"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.1994.tb11916.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053696871"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-10", 
    "datePublishedReg": "2018-10-01", 
    "description": "Marker chromosomes are structurally abnormal chromosomes that may be supernumerary in karyotype or replace one of the chromosomes. Marker chromosomes very frequently can be a cause of different pathologies, including a intellectual disability. This study considers the molecular cytogenetic analysis of an acrocentric marker chromosome in a patient with autism and a intellectual disability. With the help of the painting probe localization of human chromosomes, its origin from the pericentromeric regions of the p and q arms of chromosome 15 is shown. For more detailed detection of the region of origin of this chromosome, its microdissection following localization on both healthy control and patient metaphase plates was carried out. Its origin from the nucleolus-containing chromosome 15 is confirmed. Because of the rDNA-containing plasmid localization, two of the ribosome RNA gene clusters were detected on the patient\u2019s chromosomes. Ag-NOR staining showed that both clusters are active. A possible contribution of the revealed chromosome pathology in clinical picture formation is discussed.", 
    "genre": "research_article", 
    "id": "sg:pub.10.3103/s0891416818040080", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.4896798", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1097703", 
        "issn": [
          "0891-4168", 
          "1934-841X"
        ], 
        "name": "Molecular Genetics, Microbiology and Virology", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "33"
      }
    ], 
    "name": "The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability: A Clinical Case Report", 
    "pagination": "241-244", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "3367985fda46a38bf49ef50e465617f6c90c82f62e3013a0121088cec33fc92b"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.3103/s0891416818040080"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1112467941"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.3103/s0891416818040080", 
      "https://app.dimensions.ai/details/publication/pub.1112467941"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T10:31", 
    "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/v90/0000000349_0000000349/records_113650_00000005.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.3103%2FS0891416818040080"
  }
]
 

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.10.3103/s0891416818040080'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.3103/s0891416818040080'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.3103/s0891416818040080'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.3103/s0891416818040080'


 

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

133 TRIPLES      21 PREDICATES      36 URIs      19 LITERALS      7 BLANK NODES

Subject Predicate Object
1 sg:pub.10.3103/s0891416818040080 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N69d01f2f0d2b4de79601765e133e918f
4 schema:citation sg:pub.10.1038/ng1096-163
5 sg:pub.10.1186/1471-2350-14-9
6 sg:pub.10.1186/1750-1172-3-30
7 sg:pub.10.1186/1755-8166-6-46
8 https://doi.org/10.1042/bj2460519
9 https://doi.org/10.1074/jbc.m115.682161
10 https://doi.org/10.1111/j.1469-8749.1994.tb11916.x
11 https://doi.org/10.1523/jneurosci.2439-08.2008
12 https://doi.org/10.4103/2277-9175.161542
13 schema:datePublished 2018-10
14 schema:datePublishedReg 2018-10-01
15 schema:description Marker chromosomes are structurally abnormal chromosomes that may be supernumerary in karyotype or replace one of the chromosomes. Marker chromosomes very frequently can be a cause of different pathologies, including a intellectual disability. This study considers the molecular cytogenetic analysis of an acrocentric marker chromosome in a patient with autism and a intellectual disability. With the help of the painting probe localization of human chromosomes, its origin from the pericentromeric regions of the p and q arms of chromosome 15 is shown. For more detailed detection of the region of origin of this chromosome, its microdissection following localization on both healthy control and patient metaphase plates was carried out. Its origin from the nucleolus-containing chromosome 15 is confirmed. Because of the rDNA-containing plasmid localization, two of the ribosome RNA gene clusters were detected on the patient’s chromosomes. Ag-NOR staining showed that both clusters are active. A possible contribution of the revealed chromosome pathology in clinical picture formation is discussed.
16 schema:genre research_article
17 schema:inLanguage en
18 schema:isAccessibleForFree false
19 schema:isPartOf N1f7deb7f8b8341e9b3af5743984c3126
20 N7a8034f4f60646ce8d70cb9f5233a8e5
21 sg:journal.1097703
22 schema:name The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability: A Clinical Case Report
23 schema:pagination 241-244
24 schema:productId Nb0d37db6048c4a4498df54293a2f8dc0
25 Nd38178f4a9c745ae8f786dc75fec3e55
26 Nd8d91b794d44424e858b3c0384f1dfd8
27 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112467941
28 https://doi.org/10.3103/s0891416818040080
29 schema:sdDatePublished 2019-04-11T10:31
30 schema:sdLicense https://scigraph.springernature.com/explorer/license/
31 schema:sdPublisher Na3c3e6a14a9e46b68f6c179027a8835c
32 schema:url https://link.springer.com/10.3103%2FS0891416818040080
33 sgo:license sg:explorer/license/
34 sgo:sdDataset articles
35 rdf:type schema:ScholarlyArticle
36 N1f7deb7f8b8341e9b3af5743984c3126 schema:volumeNumber 33
37 rdf:type schema:PublicationVolume
38 N4e2597fa5b304343bdd72fb9bfb13eec schema:affiliation https://www.grid.ac/institutes/grid.445341.3
39 schema:familyName Maksimova
40 schema:givenName Yu. V.
41 rdf:type schema:Person
42 N544f77b89fa3415797a1f9f08f73bf8c rdf:first N7c7df348993342bd90dc09c7a7ce9106
43 rdf:rest rdf:nil
44 N57038beb01a24ce6bc71e9dd6174dfbb schema:affiliation Nec185c5e9ff4460dbd905e068e894dde
45 schema:familyName Shorina
46 schema:givenName A. R.
47 rdf:type schema:Person
48 N69d01f2f0d2b4de79601765e133e918f rdf:first Ne018bd465bf84db7908fb5f7a0db1e0f
49 rdf:rest Nf2fdff6888204cb6b3498eb5acb29429
50 N6c137e247ebd4711a51989c38d92ece7 schema:affiliation https://www.grid.ac/institutes/grid.4605.7
51 schema:familyName Romanenko
52 schema:givenName S. A.
53 rdf:type schema:Person
54 N76851103581a494b864f71c490095112 rdf:first N995d3edf2354474391f017080f2ad5e4
55 rdf:rest N90b92410b26f45ccaaa519c389b14732
56 N7a8034f4f60646ce8d70cb9f5233a8e5 schema:issueNumber 4
57 rdf:type schema:PublicationIssue
58 N7c7df348993342bd90dc09c7a7ce9106 schema:affiliation https://www.grid.ac/institutes/grid.4605.7
59 schema:familyName Yudkin
60 schema:givenName D. V.
61 rdf:type schema:Person
62 N90b92410b26f45ccaaa519c389b14732 rdf:first N4e2597fa5b304343bdd72fb9bfb13eec
63 rdf:rest Nd6bf4c7002ac4f26b65b6accea15ff7c
64 N995d3edf2354474391f017080f2ad5e4 schema:affiliation https://www.grid.ac/institutes/grid.4886.2
65 schema:familyName Lemskaya
66 schema:givenName N. A.
67 rdf:type schema:Person
68 Na3c3e6a14a9e46b68f6c179027a8835c schema:name Springer Nature - SN SciGraph project
69 rdf:type schema:Organization
70 Nb0d37db6048c4a4498df54293a2f8dc0 schema:name dimensions_id
71 schema:value pub.1112467941
72 rdf:type schema:PropertyValue
73 Nd38178f4a9c745ae8f786dc75fec3e55 schema:name doi
74 schema:value 10.3103/s0891416818040080
75 rdf:type schema:PropertyValue
76 Nd6bf4c7002ac4f26b65b6accea15ff7c rdf:first N57038beb01a24ce6bc71e9dd6174dfbb
77 rdf:rest N544f77b89fa3415797a1f9f08f73bf8c
78 Nd8d91b794d44424e858b3c0384f1dfd8 schema:name readcube_id
79 schema:value 3367985fda46a38bf49ef50e465617f6c90c82f62e3013a0121088cec33fc92b
80 rdf:type schema:PropertyValue
81 Ne018bd465bf84db7908fb5f7a0db1e0f schema:affiliation https://www.grid.ac/institutes/grid.4605.7
82 schema:familyName Telepova
83 schema:givenName A. S.
84 rdf:type schema:Person
85 Nec185c5e9ff4460dbd905e068e894dde schema:name Novosibirsk City Clinical Hospital No. 1, 630047, Novosibirsk, Russia
86 rdf:type schema:Organization
87 Nf2fdff6888204cb6b3498eb5acb29429 rdf:first N6c137e247ebd4711a51989c38d92ece7
88 rdf:rest N76851103581a494b864f71c490095112
89 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
90 schema:name Biological Sciences
91 rdf:type schema:DefinedTerm
92 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
93 schema:name Genetics
94 rdf:type schema:DefinedTerm
95 sg:grant.4896798 http://pending.schema.org/fundedItem sg:pub.10.3103/s0891416818040080
96 rdf:type schema:MonetaryGrant
97 sg:journal.1097703 schema:issn 0891-4168
98 1934-841X
99 schema:name Molecular Genetics, Microbiology and Virology
100 rdf:type schema:Periodical
101 sg:pub.10.1038/ng1096-163 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021437230
102 https://doi.org/10.1038/ng1096-163
103 rdf:type schema:CreativeWork
104 sg:pub.10.1186/1471-2350-14-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004654887
105 https://doi.org/10.1186/1471-2350-14-9
106 rdf:type schema:CreativeWork
107 sg:pub.10.1186/1750-1172-3-30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051896513
108 https://doi.org/10.1186/1750-1172-3-30
109 rdf:type schema:CreativeWork
110 sg:pub.10.1186/1755-8166-6-46 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005889496
111 https://doi.org/10.1186/1755-8166-6-46
112 rdf:type schema:CreativeWork
113 https://doi.org/10.1042/bj2460519 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020473326
114 rdf:type schema:CreativeWork
115 https://doi.org/10.1074/jbc.m115.682161 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004167207
116 rdf:type schema:CreativeWork
117 https://doi.org/10.1111/j.1469-8749.1994.tb11916.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1053696871
118 rdf:type schema:CreativeWork
119 https://doi.org/10.1523/jneurosci.2439-08.2008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041392505
120 rdf:type schema:CreativeWork
121 https://doi.org/10.4103/2277-9175.161542 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042723250
122 rdf:type schema:CreativeWork
123 https://www.grid.ac/institutes/grid.445341.3 schema:alternateName Novosibirsk State Medical University
124 schema:name Novosibirsk City Clinical Hospital No. 1, 630047, Novosibirsk, Russia
125 Novosibirsk State Medical University, 630091, Novosibirsk, Russia
126 rdf:type schema:Organization
127 https://www.grid.ac/institutes/grid.4605.7 schema:alternateName Novosibirsk State University
128 schema:name Institute of Molecular and Cellular Biology, Russian Academy of Sciences, Siberian Branch, 630090, Novosibirsk, Russia
129 Novosibirsk State University, 630090, Novosibirsk, Russia
130 rdf:type schema:Organization
131 https://www.grid.ac/institutes/grid.4886.2 schema:alternateName Russian Academy of Sciences
132 schema:name Institute of Molecular and Cellular Biology, Russian Academy of Sciences, Siberian Branch, 630090, Novosibirsk, Russia
133 rdf:type schema:Organization
 




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


...