Trisomy 22: The heart aspect
β Scribed by Kontomanolis, E. N.; Pandya, P.; Limperis, V.
- Book ID
- 118051472
- Publisher
- Informa plc
- Year
- 2010
- Tongue
- English
- Weight
- 268 KB
- Volume
- 30
- Category
- Article
- ISSN
- 0144-3615
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π SIMILAR VOLUMES
A patient with partial trisomy 22(PT22) is presented. Inheritance is presumed to be due to secondary nondisjunction in her mother, who has a balanced translocation t(11;22)(q25;q13). The problem of the phenotypic heterogeneity observed with this chromosome change is discussed.
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.