[Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission].
Identifieur interne : 00FC49 ( Main/Exploration ); précédent : 00FC48; suivant : 00FC50[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
Affiliations:
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Le document en format XML
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Navarro</name></author><author><name sortKey="Dejean, M" sort="Dejean, M" uniqKey="Dejean M" first="M" last="Dejean">M. Dejean</name></author><author><name sortKey="Izarn, P" sort="Izarn, P" uniqKey="Izarn P" first="P" last="Izarn">P. Izarn</name></author></analytic><series><title level="j">Journal de genetique humaine</title><idno type="ISSN">0021-7743</idno><imprint><date when="1979" type="published">1979</date></imprint></series></biblStruct></sourceDesc></fileDesc><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></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Enfant</term><term>Femelle</term><term>Gènes dominants</term><term>Humains</term><term>Hémopathies (génétique)</term><term>Leucopénie (génétique)</term><term>Leucémie aigüe myéloïde (génétique)</term><term>Lymphoedème (génétique)</term><term>Mâle</term><term>Pedigree</term><term>Surdité (génétique)</term><term>Syndrome</term></keywords><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></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Hémopathies</term><term>Leucopénie</term><term>Leucémie aigüe myéloïde</term><term>Lymphoedème</term><term>Surdité</term></keywords><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><term>Syndrome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Enfant</term><term>Femelle</term><term>Gènes dominants</term><term>Humains</term><term>Mâle</term><term>Pedigree</term><term>Syndrome</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Dejean, M" sort="Dejean, M" uniqKey="Dejean M" first="M" last="Dejean">M. Dejean</name><name sortKey="Emberger, J M" sort="Emberger, J M" uniqKey="Emberger J" first="J M" last="Emberger">J M Emberger</name><name sortKey="Izarn, P" sort="Izarn, P" uniqKey="Izarn P" first="P" last="Izarn">P. Izarn</name><name sortKey="Navarro, M" sort="Navarro, M" uniqKey="Navarro M" first="M" last="Navarro">M. Navarro</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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