Possible isochromosome 22 leading to trisomy 22
β Scribed by Manasse, Bridget F. ;Pfaffenzeller, Wilma M. ;Gurtunca, Nursen ;de Ravel, Thomy J.L.
- Book ID
- 102662916
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 542 KB
- Volume
- 95
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
The case of a 2 1/2-month-old male child with intrauterine distrophy features and multiple congenital malformations is presented. Cytogenetic studies of the child and his parents, completed with Q- and G-banding techniques led us to conclude that it is a case of 22 trisomy inherited from his mother.
A family is reported in which the propositus has an extra G-like chromosome with an unusual G-banding pattern. Cytogenetic family studies showed that the mother is a carrier of a balanced reciprocal translocation t(13;22), which does not affect the size and morphology of the chromosomes involved. Th