Article: article from journal or magazin.
Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10
American Journal of Medical Genetics
PT - Case Reports PT - Journal Article
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
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
Web of science
Last modification date