LymphedemaV1, Istex, Corpus, bibRecord, 007100

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

Identifieur interne : 007100 ( Istex/Corpus ); précédent : 007099; suivant : 007101

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

Auteurs : Dominique Well ; Marie-France Portnoi ; Jacquellne Levilliers ; Irène Wang ; Michèle Mathieu ; Jean-Louis Talliemite ; Murielle Meler ; Bernard Boudailliez ; Christine Petit

Source :

Human Molecular Genetics [ 0964-6906 ] ; 1993-11.

RBID : ISTEX:F0EB5D77827018A655AA12BB2CAFCE3E3B03DC65

Abstract

In a male patient with a 45,X karyotype, the terminal part of the Y chromosome short arm was translocated as a single block on to the X chromosome. This rearranged X chromosome was, in every regard, the same as that present in XX males resulting from an abnormal X-Y interchange. Correlations between the phenotype of this patient and the extent of the deletions on the X and Y chromosomes allowed us to map the genes responsible for most features of the Turner syndrome between DXS432 and Xqter on the X chromosome, and the homologous Y genes either on Yp in interval 4 or on Yq. The molecular analysis of this X-Y translocation allowed us also to reduce the interval for the X-linked recessive chondrodysplasia punctata gene to a 1.5 Mb interval between DXS432 and DXS31.

Url:

https://api.istex.fr/document/F0EB5D77827018A655AA12BB2CAFCE3E3B03DC65/fulltext/pdf

DOI: 10.1093/hmg/2.11.1853

Links to Exploration step

ISTEX:F0EB5D77827018A655AA12BB2CAFCE3E3B03DC65

Le document en format XML

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<name><surname>Well</surname>
<given-names>Dominique</given-names>
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<name><surname>Portnoi</surname>
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<name><surname>Levilliers</surname>
<given-names>Jacquellne</given-names>
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<name><surname>Wang</surname>
<given-names>Irène</given-names>
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<name><surname>Mathieu</surname>
<given-names>Michèle</given-names>
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<xref ref-type="aff" rid="au2"><sup>2</sup>
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<name><surname>Talliemite</surname>
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<name><surname>Meler</surname>
<given-names>Murielle</given-names>
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<name><surname>Boudailliez</surname>
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<name><surname>Petit</surname>
<given-names>Christine</given-names>
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<xref ref-type="corresp" rid="cor1"><sup>*</sup>
</xref>

</contrib>

<aff><institution>Institut Pasteur, Unité de Génétique Moléculaire Humaine (CNRS URA 1445)</institution>
 <addr-line>Pans</addr-line>
</aff>

<aff id="au1"><sup>1</sup>
<institution>Hôpital Saint Antoine, Laboratoire d'Embryologie Pathologique et de Cytogénétique</institution>
 <addr-line>Pans</addr-line>
</aff>

<aff id="au2"><sup>2</sup>
<institution>Hôpital Nord, Centre Hospitalier Universitaire</institution>
 <addr-line>Amiens, France</addr-line>
</aff>

</contrib-group>

<author-notes>

<corresp id="cor1"><sup>*</sup>
To whom correspondence should be addressed</corresp>

</author-notes>

<pub-date pub-type="ppub">

<month>11</month>

<year>1993</year>

</pub-date>

<volume>2</volume>

<issue>11</issue>

<fpage>1853</fpage>

<lpage>1856</lpage>

<history>

<date date-type="received">

<day>12</day>

<month>7</month>

<year>1993</year>

</date>

<date date-type="rev-recd">

<day>08</day>

<month>9</month>

<year>1993</year>

</date>

<date date-type="accepted">

<day>08</day>

<month>9</month>

<year>1993</year>

</date>

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<copyright-statement>© 1993 Oxford University Press</copyright-statement>

<copyright-year>1993</copyright-year>

<abstract>

<p>In a male patient with a 45,X karyotype, the terminal part of the Y chromosome short arm was translocated as a single block on to the X chromosome. This rearranged X chromosome was, in every regard, the same as that present in XX males resulting from an abnormal X-Y interchange. Correlations between the phenotype of this patient and the extent of the deletions on the X and Y chromosomes allowed us to map the genes responsible for most features of the Turner syndrome between DXS432 and Xqter on the X chromosome, and the homologous Y genes either on Yp in interval 4 or on Yq. The molecular analysis of this X-Y translocation allowed us also to reduce the interval for the X-linked recessive chondrodysplasia punctata gene to a 1.5 Mb interval between DXS432 and DXS31.</p>

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<name type="personal"><namePart type="given">Marie-France</namePart>
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<name type="personal"><namePart type="given">Jacquellne</namePart>
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<name type="personal"><namePart type="given">Irène</namePart>
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<name type="personal"><namePart type="given">Jean-Louis</namePart>
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<name type="personal"><namePart type="given">Murielle</namePart>
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<name type="personal"><namePart type="given">Christine</namePart>
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<abstract>In a male patient with a 45,X karyotype, the terminal part of the Y chromosome short arm was translocated as a single block on to the X chromosome. This rearranged X chromosome was, in every regard, the same as that present in XX males resulting from an abnormal X-Y interchange. Correlations between the phenotype of this patient and the extent of the deletions on the X and Y chromosomes allowed us to map the genes responsible for most features of the Turner syndrome between DXS432 and Xqter on the X chromosome, and the homologous Y genes either on Yp in interval 4 or on Yq. The molecular analysis of this X-Y translocation allowed us also to reduce the interval for the X-linked recessive chondrodysplasia punctata gene to a 1.5 Mb interval between DXS432 and DXS31.</abstract>
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A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

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