Quinacrine fluorescence and Giemsa banding in trisomy 22 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1973-01

AUTHORS

Hope H. Punnett, Mildred L. Kistenmacher, Maria A. Toro-Sola, Gertrude Kohn

ABSTRACT

Using quinacrine fluorescence and Giemsa banding techniques we have identified an extra chromosome 22 in three non-mongoloid children with similar phenotypes and 47 chromosomes. In one of the children, the long arm of the extra 22 was shorter than usual. This 22q-chrcmcscme was observed in 4 normal family members with 46 chromosomes. In a fourth child, with similar physical findings, the extra G chromosome was shown to be neither a normal 21 nor 22. It must have arisen from a rearrangement in a parental gamete since it was not present in either parent's karyotype.No constellation of clinical findings, in association with an extra G chromosome, is sufficient evidence for the diagnosis of trisomy 22. The positive identification of the extra chromosome must be made using fluorescence and banding. More... »

PAGES

134-138

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00306562

DOI

http://dx.doi.org/10.1007/bf00306562

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013122890

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24424974


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/2008/1701", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Psychology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/17", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Psychology and Cognitive Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Philadelphia", 
          "id": "https://www.grid.ac/institutes/grid.239552.a", 
          "name": [
            "St. Christopher's Hospital for Children, Department of Pediatrics, Temple University Medical School, USA", 
            "Children's Hospital of Philadelphia, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Punnett", 
        "givenName": "Hope H.", 
        "id": "sg:person.061221510.56", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.061221510.56"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Philadelphia", 
          "id": "https://www.grid.ac/institutes/grid.239552.a", 
          "name": [
            "St. Christopher's Hospital for Children, Department of Pediatrics, Temple University Medical School, USA", 
            "Children's Hospital of Philadelphia, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kistenmacher", 
        "givenName": "Mildred L.", 
        "id": "sg:person.066257251.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.066257251.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Philadelphia", 
          "id": "https://www.grid.ac/institutes/grid.239552.a", 
          "name": [
            "St. Christopher's Hospital for Children, Department of Pediatrics, Temple University Medical School, USA", 
            "Children's Hospital of Philadelphia, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Toro-Sola", 
        "givenName": "Maria A.", 
        "id": "sg:person.010726355174.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010726355174.86"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Philadelphia", 
          "id": "https://www.grid.ac/institutes/grid.239552.a", 
          "name": [
            "St. Christopher's Hospital for Children, Department of Pediatrics, Temple University Medical School, USA", 
            "Children's Hospital of Philadelphia, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kohn", 
        "givenName": "Gertrude", 
        "id": "sg:person.0106507705.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0106507705.46"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1111/j.1365-2788.1969.tb01071.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1008505665"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0014-4827(70)90523-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012175587"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1972.tb01735.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017792668"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0014-4827(70)90363-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026847128"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(71)80052-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029201238"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(65)80400-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034563552"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(71)90287-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043749520"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.168.3937.1356", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062500066"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075890490", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1080984497", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1973-01", 
    "datePublishedReg": "1973-01-01", 
    "description": "Using quinacrine fluorescence and Giemsa banding techniques we have identified an extra chromosome 22 in three non-mongoloid children with similar phenotypes and 47 chromosomes. In one of the children, the long arm of the extra 22 was shorter than usual. This 22q-chrcmcscme was observed in 4 normal family members with 46 chromosomes. In a fourth child, with similar physical findings, the extra G chromosome was shown to be neither a normal 21 nor 22. It must have arisen from a rearrangement in a parental gamete since it was not present in either parent's karyotype.No constellation of clinical findings, in association with an extra G chromosome, is sufficient evidence for the diagnosis of trisomy 22. The positive identification of the extra chromosome must be made using fluorescence and banding. ", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/bf00306562", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1135804", 
        "issn": [
          "0040-5752", 
          "1432-2242"
        ], 
        "name": "Theoretical and Applied Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3-4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "43"
      }
    ], 
    "name": "Quinacrine fluorescence and Giemsa banding in trisomy 22", 
    "pagination": "134-138", 
    "productId": [
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/bf00306562"
        ]
      }, 
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "3e83508ef76ab4b2d0956872b2baaf8d9c3cac873b438de5d23b8d7f65ca3a1a"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1013122890"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "0145600"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "24424974"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/bf00306562", 
      "https://app.dimensions.ai/details/publication/pub.1013122890"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-15T08:47", 
    "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/v90/0000000374_0000000374/records_119714_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/BF00306562"
  }
]
 

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.10.1007/bf00306562'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/bf00306562'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf00306562'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf00306562'


 

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

119 TRIPLES      21 PREDICATES      39 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/bf00306562 schema:about anzsrc-for:17
2 anzsrc-for:1701
3 schema:author Nbd17b30297a2437f89d5219fe1aca264
4 schema:citation https://app.dimensions.ai/details/publication/pub.1075890490
5 https://app.dimensions.ai/details/publication/pub.1080984497
6 https://doi.org/10.1016/0014-4827(70)90363-0
7 https://doi.org/10.1016/0014-4827(70)90523-9
8 https://doi.org/10.1016/s0022-3476(65)80400-0
9 https://doi.org/10.1016/s0022-3476(71)80052-5
10 https://doi.org/10.1016/s0140-6736(71)90287-x
11 https://doi.org/10.1111/j.1365-2788.1969.tb01071.x
12 https://doi.org/10.1111/j.1399-0004.1972.tb01735.x
13 https://doi.org/10.1126/science.168.3937.1356
14 schema:datePublished 1973-01
15 schema:datePublishedReg 1973-01-01
16 schema:description Using quinacrine fluorescence and Giemsa banding techniques we have identified an extra chromosome 22 in three non-mongoloid children with similar phenotypes and 47 chromosomes. In one of the children, the long arm of the extra 22 was shorter than usual. This 22q-chrcmcscme was observed in 4 normal family members with 46 chromosomes. In a fourth child, with similar physical findings, the extra G chromosome was shown to be neither a normal 21 nor 22. It must have arisen from a rearrangement in a parental gamete since it was not present in either parent's karyotype.No constellation of clinical findings, in association with an extra G chromosome, is sufficient evidence for the diagnosis of trisomy 22. The positive identification of the extra chromosome must be made using fluorescence and banding.
17 schema:genre research_article
18 schema:inLanguage en
19 schema:isAccessibleForFree false
20 schema:isPartOf N0c233a95af144ceabbfcf3d59cd6c8d8
21 N1dbf187c2388492cae724b7405b6dd2b
22 sg:journal.1135804
23 schema:name Quinacrine fluorescence and Giemsa banding in trisomy 22
24 schema:pagination 134-138
25 schema:productId N29805ed60d9f4dbbabafbc8708b5f260
26 N5ce3608c3ce24091ba8a7f01dec87242
27 Na78b8567920d4a6eb2fd7d73a5a7beb6
28 Nbbbf840eb37e4d1bbc83ab6890e792ff
29 Nfb49d13015554d9f8565af2ec0ada63d
30 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013122890
31 https://doi.org/10.1007/bf00306562
32 schema:sdDatePublished 2019-04-15T08:47
33 schema:sdLicense https://scigraph.springernature.com/explorer/license/
34 schema:sdPublisher N80cd919845c243c086492fa9bd83a144
35 schema:url http://link.springer.com/10.1007/BF00306562
36 sgo:license sg:explorer/license/
37 sgo:sdDataset articles
38 rdf:type schema:ScholarlyArticle
39 N0c233a95af144ceabbfcf3d59cd6c8d8 schema:volumeNumber 43
40 rdf:type schema:PublicationVolume
41 N1dbf187c2388492cae724b7405b6dd2b schema:issueNumber 3-4
42 rdf:type schema:PublicationIssue
43 N29805ed60d9f4dbbabafbc8708b5f260 schema:name doi
44 schema:value 10.1007/bf00306562
45 rdf:type schema:PropertyValue
46 N2a70064e351d43d8810a133429c72668 rdf:first sg:person.010726355174.86
47 rdf:rest N47bd7b56a1d248f88815e4fddbebb8a1
48 N47bd7b56a1d248f88815e4fddbebb8a1 rdf:first sg:person.0106507705.46
49 rdf:rest rdf:nil
50 N5ce3608c3ce24091ba8a7f01dec87242 schema:name dimensions_id
51 schema:value pub.1013122890
52 rdf:type schema:PropertyValue
53 N80cd919845c243c086492fa9bd83a144 schema:name Springer Nature - SN SciGraph project
54 rdf:type schema:Organization
55 N8a9a44f741664c5ab21b351e6642eaf8 rdf:first sg:person.066257251.63
56 rdf:rest N2a70064e351d43d8810a133429c72668
57 Na78b8567920d4a6eb2fd7d73a5a7beb6 schema:name readcube_id
58 schema:value 3e83508ef76ab4b2d0956872b2baaf8d9c3cac873b438de5d23b8d7f65ca3a1a
59 rdf:type schema:PropertyValue
60 Nbbbf840eb37e4d1bbc83ab6890e792ff schema:name pubmed_id
61 schema:value 24424974
62 rdf:type schema:PropertyValue
63 Nbd17b30297a2437f89d5219fe1aca264 rdf:first sg:person.061221510.56
64 rdf:rest N8a9a44f741664c5ab21b351e6642eaf8
65 Nfb49d13015554d9f8565af2ec0ada63d schema:name nlm_unique_id
66 schema:value 0145600
67 rdf:type schema:PropertyValue
68 anzsrc-for:17 schema:inDefinedTermSet anzsrc-for:
69 schema:name Psychology and Cognitive Sciences
70 rdf:type schema:DefinedTerm
71 anzsrc-for:1701 schema:inDefinedTermSet anzsrc-for:
72 schema:name Psychology
73 rdf:type schema:DefinedTerm
74 sg:journal.1135804 schema:issn 0040-5752
75 1432-2242
76 schema:name Theoretical and Applied Genetics
77 rdf:type schema:Periodical
78 sg:person.0106507705.46 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
79 schema:familyName Kohn
80 schema:givenName Gertrude
81 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0106507705.46
82 rdf:type schema:Person
83 sg:person.010726355174.86 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
84 schema:familyName Toro-Sola
85 schema:givenName Maria A.
86 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010726355174.86
87 rdf:type schema:Person
88 sg:person.061221510.56 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
89 schema:familyName Punnett
90 schema:givenName Hope H.
91 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.061221510.56
92 rdf:type schema:Person
93 sg:person.066257251.63 schema:affiliation https://www.grid.ac/institutes/grid.239552.a
94 schema:familyName Kistenmacher
95 schema:givenName Mildred L.
96 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.066257251.63
97 rdf:type schema:Person
98 https://app.dimensions.ai/details/publication/pub.1075890490 schema:CreativeWork
99 https://app.dimensions.ai/details/publication/pub.1080984497 schema:CreativeWork
100 https://doi.org/10.1016/0014-4827(70)90363-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026847128
101 rdf:type schema:CreativeWork
102 https://doi.org/10.1016/0014-4827(70)90523-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012175587
103 rdf:type schema:CreativeWork
104 https://doi.org/10.1016/s0022-3476(65)80400-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034563552
105 rdf:type schema:CreativeWork
106 https://doi.org/10.1016/s0022-3476(71)80052-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029201238
107 rdf:type schema:CreativeWork
108 https://doi.org/10.1016/s0140-6736(71)90287-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1043749520
109 rdf:type schema:CreativeWork
110 https://doi.org/10.1111/j.1365-2788.1969.tb01071.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1008505665
111 rdf:type schema:CreativeWork
112 https://doi.org/10.1111/j.1399-0004.1972.tb01735.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1017792668
113 rdf:type schema:CreativeWork
114 https://doi.org/10.1126/science.168.3937.1356 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062500066
115 rdf:type schema:CreativeWork
116 https://www.grid.ac/institutes/grid.239552.a schema:alternateName Children's Hospital of Philadelphia
117 schema:name Children's Hospital of Philadelphia, USA
118 St. Christopher's Hospital for Children, Department of Pediatrics, Temple University Medical School, USA
119 rdf:type schema:Organization
 




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


...