Sisters with polysplenia
Identifieur interne : 003512 ( Main/Exploration ); précédent : 003511; suivant : 003513Sisters with polysplenia
Auteurs : Suzanne M. De La Monte [États-Unis] ; Grover M. Hutchins [États-Unis] ; John M. Opitz ; James F. ReynoldsSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1985-05.
Abstract
The pathogenesis of asplenia and polysplenia in humans is unknown. The conditions have been regarded as duplication of sidedness or abnormalities of embryonic curvature. The resemblance of the abnormalities in an autosomal recessive mutation (iv) in mice to those in humans with asplenia or polysplenia suggest the possibility of a genetic basis for asplenia/polysplenia in humans. We have studied a family in which two sisters had polysplenia, one sib pregnancy resulted in abortion, and two sibs and the parents are living and well with no evidence of the condition. Documentation of such families will be of value in determining the variations in expression of the condition and possible relationship between asplenia and polysplenia.
Url:
DOI: 10.1002/ajmg.1320210125
Affiliations:
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Sisters with polysplenia</title><author><name sortKey="De La Monte, Suzanne M" sort="De La Monte, Suzanne M" uniqKey="De La Monte S" first="Suzanne M." last="De La Monte">Suzanne M. De La Monte</name></author><author><name sortKey="Hutchins, Grover M" sort="Hutchins, Grover M" uniqKey="Hutchins G" first="Grover M." last="Hutchins">Grover M. Hutchins</name></author><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:18C10BB213FF82BDCA97F7281EE472BF5EE09058</idno><date when="1985" year="1985">1985</date><idno type="doi">10.1002/ajmg.1320210125</idno><idno type="url">https://api.istex.fr/ark:/67375/WNG-Q8VK5CK6-4/fulltext.pdf</idno><idno type="wicri:Area/Istex/Corpus">001C87</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001C87</idno><idno type="wicri:Area/Istex/Curation">001C87</idno><idno type="wicri:Area/Istex/Checkpoint">002271</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">002271</idno><idno type="wicri:doubleKey">0148-7299:1985:De La Monte S:sisters:with:polysplenia</idno><idno type="wicri:Area/Main/Merge">003586</idno><idno type="wicri:Area/Main/Curation">003512</idno><idno type="wicri:Area/Main/Exploration">003512</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Sisters with polysplenia</title><author><name sortKey="De La Monte, Suzanne M" sort="De La Monte, Suzanne M" uniqKey="De La Monte S" first="Suzanne M." last="De La Monte">Suzanne M. De La Monte</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Autopsy Pathology Division, Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Hutchins, Grover M" sort="Hutchins, Grover M" uniqKey="Hutchins G" first="Grover M." last="Hutchins">Grover M. Hutchins</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Autopsy Pathology Division, Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Correspondence address: Department of Pathology, The Johns Hopkins Hospital, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">21</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="171">171</biblScope><biblScope unit="page" to="173">173</biblScope><biblScope unit="page-count">3</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1985-05">1985-05</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The pathogenesis of asplenia and polysplenia in humans is unknown. The conditions have been regarded as duplication of sidedness or abnormalities of embryonic curvature. The resemblance of the abnormalities in an autosomal recessive mutation (iv) in mice to those in humans with asplenia or polysplenia suggest the possibility of a genetic basis for asplenia/polysplenia in humans. We have studied a family in which two sisters had polysplenia, one sib pregnancy resulted in abortion, and two sibs and the parents are living and well with no evidence of the condition. Documentation of such families will be of value in determining the variations in expression of the condition and possible relationship between asplenia and polysplenia.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li></region></list><tree><noCountry><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></noCountry><country name="États-Unis"><region name="Maryland"><name sortKey="De La Monte, Suzanne M" sort="De La Monte, Suzanne M" uniqKey="De La Monte S" first="Suzanne M." last="De La Monte">Suzanne M. De La Monte</name></region><name sortKey="Hutchins, Grover M" sort="Hutchins, Grover M" uniqKey="Hutchins G" first="Grover M." last="Hutchins">Grover M. Hutchins</name><name sortKey="Hutchins, Grover M" sort="Hutchins, Grover M" uniqKey="Hutchins G" first="Grover M." last="Hutchins">Grover M. Hutchins</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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