Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.
Identifieur interne : 001899 ( Pmc/Corpus ); précédent : 001898; suivant : 001900Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.
Auteurs : T. Kuznetzova ; A. Baranov ; N. Schwed ; T. Ivaschenko ; P. Malet ; M. Giollant ; G A Savitsky ; V. BaranovSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1995.
Abstract
Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter group. The X chromosome origin of the marker chromosome was proved by FISH technique with biotin labelled pericentromeric X chromosome specific probe in four other patients. These results show that patients with a number of Turner's syndrome stigmata usually do not have a typical XO karyotype but have some structural chromosomal aberrations involving the X or Y chromosomes. Combined application of cytogenetic, molecular cytogenetic (FISH), and PCR techniques significantly improves the precision of marker chromosome identification and thus might be of practical importance for the proper management and treatment of affected patients. Peculiarities of pathological manifestations of different karyotypes bearing structural abnormalities of the X or Y chromosomes in patients with Turner's syndrome stigmata, as well as feasible genetic mechanisms of sex determination and differentiation abnormalities in these subjects, are briefly discussed.
Url:
PubMed: 8825925
PubMed Central: 1051778
Links to Exploration step
PMC:1051778Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.</title>
<author><name sortKey="Kuznetzova, T" sort="Kuznetzova, T" uniqKey="Kuznetzova T" first="T" last="Kuznetzova">T. Kuznetzova</name>
</author>
<author><name sortKey="Baranov, A" sort="Baranov, A" uniqKey="Baranov A" first="A" last="Baranov">A. Baranov</name>
</author>
<author><name sortKey="Schwed, N" sort="Schwed, N" uniqKey="Schwed N" first="N" last="Schwed">N. Schwed</name>
</author>
<author><name sortKey="Ivaschenko, T" sort="Ivaschenko, T" uniqKey="Ivaschenko T" first="T" last="Ivaschenko">T. Ivaschenko</name>
</author>
<author><name sortKey="Malet, P" sort="Malet, P" uniqKey="Malet P" first="P" last="Malet">P. Malet</name>
</author>
<author><name sortKey="Giollant, M" sort="Giollant, M" uniqKey="Giollant M" first="M" last="Giollant">M. Giollant</name>
</author>
<author><name sortKey="Savitsky, G A" sort="Savitsky, G A" uniqKey="Savitsky G" first="G A" last="Savitsky">G A Savitsky</name>
</author>
<author><name sortKey="Baranov, V" sort="Baranov, V" uniqKey="Baranov V" first="V" last="Baranov">V. Baranov</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">8825925</idno>
<idno type="pmc">1051778</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051778</idno>
<idno type="RBID">PMC:1051778</idno>
<date when="1995">1995</date>
<idno type="wicri:Area/Pmc/Corpus">001899</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001899</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.</title>
<author><name sortKey="Kuznetzova, T" sort="Kuznetzova, T" uniqKey="Kuznetzova T" first="T" last="Kuznetzova">T. Kuznetzova</name>
</author>
<author><name sortKey="Baranov, A" sort="Baranov, A" uniqKey="Baranov A" first="A" last="Baranov">A. Baranov</name>
</author>
<author><name sortKey="Schwed, N" sort="Schwed, N" uniqKey="Schwed N" first="N" last="Schwed">N. Schwed</name>
</author>
<author><name sortKey="Ivaschenko, T" sort="Ivaschenko, T" uniqKey="Ivaschenko T" first="T" last="Ivaschenko">T. Ivaschenko</name>
</author>
<author><name sortKey="Malet, P" sort="Malet, P" uniqKey="Malet P" first="P" last="Malet">P. Malet</name>
</author>
<author><name sortKey="Giollant, M" sort="Giollant, M" uniqKey="Giollant M" first="M" last="Giollant">M. Giollant</name>
</author>
<author><name sortKey="Savitsky, G A" sort="Savitsky, G A" uniqKey="Savitsky G" first="G A" last="Savitsky">G A Savitsky</name>
</author>
<author><name sortKey="Baranov, V" sort="Baranov, V" uniqKey="Baranov V" first="V" last="Baranov">V. Baranov</name>
</author>
</analytic>
<series><title level="j">Journal of Medical Genetics</title>
<idno type="ISSN">0022-2593</idno>
<idno type="eISSN">1468-6244</idno>
<imprint><date when="1995">1995</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter group. The X chromosome origin of the marker chromosome was proved by FISH technique with biotin labelled pericentromeric X chromosome specific probe in four other patients. These results show that patients with a number of Turner's syndrome stigmata usually do not have a typical XO karyotype but have some structural chromosomal aberrations involving the X or Y chromosomes. Combined application of cytogenetic, molecular cytogenetic (FISH), and PCR techniques significantly improves the precision of marker chromosome identification and thus might be of practical importance for the proper management and treatment of affected patients. Peculiarities of pathological manifestations of different karyotypes bearing structural abnormalities of the X or Y chromosomes in patients with Turner's syndrome stigmata, as well as feasible genetic mechanisms of sex determination and differentiation abnormalities in these subjects, are briefly discussed.</p>
<sec sec-type="scanned-figures"><title>Images</title>
<fig id="F1"><graphic xlink:href="jmedgene00279-0046-a" xlink:role="964"></graphic>
</fig>
<fig id="F2"><graphic xlink:href="jmedgene00279-0047-a" xlink:role="965"></graphic>
</fig>
<fig id="F3"><graphic xlink:href="jmedgene00279-0047-b" xlink:role="965"></graphic>
</fig>
</sec>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id>
<journal-title>Journal of Medical Genetics</journal-title>
<issn pub-type="ppub">0022-2593</issn>
<issn pub-type="epub">1468-6244</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">8825925</article-id>
<article-id pub-id-type="pmc">1051778</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Kuznetzova</surname>
<given-names>T</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Baranov</surname>
<given-names>A</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Schwed</surname>
<given-names>N</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Ivaschenko</surname>
<given-names>T</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Malet</surname>
<given-names>P</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Giollant</surname>
<given-names>M</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Savitsky</surname>
<given-names>G A</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Baranov</surname>
<given-names>V</given-names>
</name>
</contrib>
</contrib-group>
<aff>Institute of Obstetrics and Gynaecology, St Petersburg, Russia.</aff>
<pub-date pub-type="ppub"><month>12</month>
<year>1995</year>
</pub-date>
<volume>32</volume>
<issue>12</issue>
<fpage>962</fpage>
<lpage>967</lpage>
<abstract><p>Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter group. The X chromosome origin of the marker chromosome was proved by FISH technique with biotin labelled pericentromeric X chromosome specific probe in four other patients. These results show that patients with a number of Turner's syndrome stigmata usually do not have a typical XO karyotype but have some structural chromosomal aberrations involving the X or Y chromosomes. Combined application of cytogenetic, molecular cytogenetic (FISH), and PCR techniques significantly improves the precision of marker chromosome identification and thus might be of practical importance for the proper management and treatment of affected patients. Peculiarities of pathological manifestations of different karyotypes bearing structural abnormalities of the X or Y chromosomes in patients with Turner's syndrome stigmata, as well as feasible genetic mechanisms of sex determination and differentiation abnormalities in these subjects, are briefly discussed.</p>
<sec sec-type="scanned-figures"><title>Images</title>
<fig id="F1"><graphic xlink:href="jmedgene00279-0046-a" xlink:role="964"></graphic>
</fig>
<fig id="F2"><graphic xlink:href="jmedgene00279-0047-a" xlink:role="965"></graphic>
</fig>
<fig id="F3"><graphic xlink:href="jmedgene00279-0047-b" xlink:role="965"></graphic>
</fig>
</sec>
</abstract>
</article-meta>
</front>
</pmc>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001899 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001899 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Pmc |étape= Corpus |type= RBID |clé= PMC:1051778 |texte= Cytogenetic and molecular findings in patients with Turner's syndrome stigmata. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:8825925" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |