[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].
Identifieur interne : 006F05 ( PubMed/Corpus ); précédent : 006F04; suivant : 006F06[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].
Auteurs : J M Emberger ; M. Navarro ; M. Dejean ; P. IzarnSource :
- Journal de genetique humaine [ 0021-7743 ] ; 1979.
English descriptors
- KwdEn :
- MESH :
- genetics : Deafness, Hematologic Diseases, Leukemia, Myeloid, Acute, Leukopenia, Lymphedema.
- Child, Female, Genes, Dominant, Humans, Male, Pedigree, Syndrome.
Abstract
Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.
PubMed: 295075
Links to Exploration step
pubmed:295075Le document en format XML
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<author><name sortKey="Navarro, M" sort="Navarro, M" uniqKey="Navarro M" first="M" last="Navarro">M. Navarro</name>
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<author><name sortKey="Dejean, M" sort="Dejean, M" uniqKey="Dejean M" first="M" last="Dejean">M. Dejean</name>
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<author><name sortKey="Izarn, P" sort="Izarn, P" uniqKey="Izarn P" first="P" last="Izarn">P. Izarn</name>
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<author><name sortKey="Emberger, J M" sort="Emberger, J M" uniqKey="Emberger J" first="J M" last="Emberger">J M Emberger</name>
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<author><name sortKey="Navarro, M" sort="Navarro, M" uniqKey="Navarro M" first="M" last="Navarro">M. Navarro</name>
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<author><name sortKey="Dejean, M" sort="Dejean, M" uniqKey="Dejean M" first="M" last="Dejean">M. Dejean</name>
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<author><name sortKey="Izarn, P" sort="Izarn, P" uniqKey="Izarn P" first="P" last="Izarn">P. Izarn</name>
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<series><title level="j">Journal de genetique humaine</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term>
<term>Deafness (genetics)</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Hematologic Diseases (genetics)</term>
<term>Humans</term>
<term>Leukemia, Myeloid, Acute (genetics)</term>
<term>Leukopenia (genetics)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Pedigree</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Deafness</term>
<term>Hematologic Diseases</term>
<term>Leukemia, Myeloid, Acute</term>
<term>Leukopenia</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Humans</term>
<term>Male</term>
<term>Pedigree</term>
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<front><div type="abstract" xml:lang="en">Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.</div>
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<DateCompleted><Year>1980</Year>
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<DateRevised><Year>2007</Year>
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<Title>Journal de genetique humaine</Title>
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<ArticleTitle>[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].</ArticleTitle>
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<Abstract><AbstractText>Report of a syndrome constituted from sensorineural deaf mutism, lymphoedema of lower limbs with early onset and haematological anomalies (aucte myeloblastic leukaemia, cytopenia) in four individuals (three boys and two girls from two generations). This observation suggest autosomal dominant transmission, however recessive transmission cannot be formelly excluded.</AbstractText>
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<VernacularTitle>Surdi-mutite, lymphoedeme des membres inferieurs et anomalies hematologiques (leucose aigue, cytopenies) a transmission autosomique dominante.</VernacularTitle>
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<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
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