[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].
Identifieur interne : 009500 ( Ncbi/Curation ); précédent : 009499; suivant : 009501[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.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Hémopathies, Leucopénie, Leucémie aigüe myéloïde, Lymphoedème, Surdité.
- Enfant, Femelle, Gènes dominants, Humains, Mâle, Pedigree, Syndrome.
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
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pubmed:295075Le document en format XML
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<term>Hematologic Diseases (genetics)</term>
<term>Humans</term>
<term>Leukemia, Myeloid, Acute (genetics)</term>
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<term>Lymphedema (genetics)</term>
<term>Male</term>
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<term>Syndrome</term>
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<term>Pedigree</term>
<term>Surdité (génétique)</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Hémopathies</term>
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<term>Leucémie aigüe myéloïde</term>
<term>Lymphoedème</term>
<term>Surdité</term>
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<term>Humans</term>
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<term>Pedigree</term>
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<term>Femelle</term>
<term>Gènes dominants</term>
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<term>Mâle</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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