Sökning: "cromosome abnormalities"

Hittade 1 avhandling innehållade orden cromosome abnormalities.

1. 1. Gene dose imbalances in children with mental retardation

   Författare :Jacqueline Schoumans; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Mental retardation; MCA MR syndromes; cromosome abnormalities; subtelomeric FISH; comparative genomichybridization; array-CGH;

   Sammanfattning : Submicroscopic chromosome aberrations can cause mental retardation (MR), congenital malformations and miscarriage. It is difficult to estimate the contribution of cytogenetic abnormalities to MR because of relatively low detection sensitivity of conventional cytogenetic methods used in the diagnostic setting. LÄS MER