Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10

Détails

ID Serval
serval:BIB_8D1069E14751
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10
Périodique
American Journal of Medical Genetics
Auteur(s)
Chen M.F., Vekemans M., Meagher-Villemure K., Outerbridge E., Fraser F.C., Der K.V
ISSN
0148-7299 (Print)
Statut éditorial
Publié
Date de publication
1990
Volume
37
Numéro
4
Pages
478-481
Notes
PT - Case Reports PT - Journal Article
Résumé
We studied a baby born with physical features suggestive of the aminopterin syndrome, but without exposure of the mother to aminopterin during pregnancy. G-banded chromosomes from peripheral blood lymphocytes had a normal 46,XX pattern. However, in 50 skin fibroblasts there was a normal female karyotype in 5 cells and 45 cells showed an apparently balanced reciprocal translocation involving the long arm of chromosome 5 (band q35) and the long arm of chromosome 10 (band q22). The relation of this mosaicism to the abnormal phenotype is unclear
Mots-clé
Abnormalities,Multiple/genetics/Aminopterin/adverse effects/Chromosome Banding/Chromosomes,Human,Pair 10/Chromosomes,Human,Pair 5/Diagnosis,Differential/Female/Humans/Hypertelorism/Infant,Newborn/Lung/abnormalities/Meningocele/Mosaicism/Respiratory Insufficiency/Skull/Syndrome/Translocation,Genetic
Pubmed
Web of science
Création de la notice
29/01/2008 18:35
Dernière modification de la notice
20/08/2019 14:51
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