Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10
✍ Scribed by Chen, Moy-Fong ;Vekemans, Michel ;Meagher-Villemure, K. ;Outerbridge, Eugene ;Fraser, F. Clarke ;Der Kaloustian, Vazken M.
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 336 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.