A fourth case of ring chromosome 7

Détails

ID Serval
serval:BIB_97AE35E33731
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
A fourth case of ring chromosome 7
Périodique
Clinical Genetics
Auteur(s)
DeLozier  C. D., Theintz  G., Sizonenko  P., Engel  E.
ISSN
0009-9163 (Print)
Statut éditorial
Publié
Date de publication
08/1982
Volume
22
Numéro
2
Pages
90-8
Notes
Case Reports
Journal Article --- Old month value: Aug
Résumé
An 8-year-old child with a ring chromosome 7 is presented, the first female and the fourth such individual to be described. The associated anomalies were rather benign: she presented with short stature, minor skeletal alterations, and normal intelligence. The only truly striking feature was the presence of multiple large, pigmented naevi, suggestive of a hamartomatous origin, but unlike those typical of any particular syndrome. Though other ring 7 patients have had naevus flammeus, and one had cafe-au-lait spots, our proband is the first with an anomaly of chromosome 7 to have such extensive lesions. These four cases of ring 7, which show great phenotypic variation, are reviewed, and the clinical presentation of the proband is also compared with that of patients suffering from terminal, interstitial and translocation-derived 7p and 7q deletions. The formation and behavior of ring chromosomes are discussed, as are the cytogenetic factors which may influence their phenotypic expression.
Mots-clé
Child Chromosome Banding *Chromosome Deletion Chromosomes, Human, 6-12 and X/*ultrastructure Female Genes, Recessive Humans Karyotyping Nevus/etiology Phenotype
Pubmed
Web of science
Création de la notice
25/01/2008 10:31
Dernière modification de la notice
20/08/2019 14:59
Données d'usage