LymphedemaV1, Main, Exploration, bibRecord, 00C881

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.

Identifieur interne : 00C881 ( Main/Exploration ); précédent : 00C880; suivant : 00C882

A 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. Neri

Source :

Clinical dysmorphology [ 0962-8827 ] ; 1994.

RBID : pubmed:7894733

Descripteurs français

KwdFr :
- Agénésie du corps calleux, Cartographie chromosomique, Caryotypage, Chromosomes humains de la paire 3, Délétion de segment de chromosome, Femelle, Humains, Malformations multiples (génétique), Mâle, Nourrisson, Zébrage chromosomique.
MESH :
- génétique : Malformations multiples.
- Agénésie du corps calleux, Cartographie chromosomique, Caryotypage, Chromosomes humains de la paire 3, Délétion de segment de chromosome, Femelle, Humains, Mâle, Nourrisson, Zébrage chromosomique.

English descriptors

KwdEn :
- Abnormalities, Multiple (genetics), Agenesis of Corpus Callosum, Chromosome Banding, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 3, Female, Humans, Infant, Karyotyping, Male.
MESH :
- genetics : Abnormalities, Multiple.
- Agenesis of Corpus Callosum, Chromosome Banding, Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 3, Female, Humans, Infant, Karyotyping, Male.

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

Affiliations:

Le document en format XML

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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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Serveur d'exploration sur le lymphœdème

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
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