A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
Identifieur interne : 00B283 ( Ncbi/Merge ); précédent : 00B282; suivant : 00B284A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
Auteurs : M. Genuardi [Italie] ; F. Calvieri ; C. Tozzi ; R. Coslovi ; G. NeriSource :
- Clinical dysmorphology [ 0962-8827 ] ; 1994.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
Abstract
We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.
PubMed: 7894733
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pubmed:7894733Le document en format XML
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<term>Chromosome Deletion</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 3</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Karyotyping</term>
<term>Male</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Agénésie du corps calleux</term>
<term>Cartographie chromosomique</term>
<term>Caryotypage</term>
<term>Chromosomes humains de la paire 3</term>
<term>Délétion de segment de chromosome</term>
<term>Femelle</term>
<term>Humains</term>
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<term>Chromosomes, Human, Pair 3</term>
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<term>Humans</term>
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<term>Caryotypage</term>
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<term>Délétion de segment de chromosome</term>
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<front><div type="abstract" xml:lang="en">We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.</div>
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<ArticleTitle>A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.</ArticleTitle>
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<Abstract><AbstractText>We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.</AbstractText>
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