RESUMO
The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL , SMC1A , SMC3 , RAD21 , and HDAC8 . On the other hand, 10q11.2 deletions cause a wide range of presentations in patients. Approximately 40 cases with variable deletions of 10q11.2 have been reported in literature. Some of the reported cases involve the coexistence of duplication or deletion affecting one copy of the chromosome. However, deletion of chromosome 10q11.22-q11.23 and CdLS syndrome caused by NIPBL gene mutations have not been reported previously. This report, therefore, is the first to report their coexistence together.
RESUMO
Pharmacogenetics is interested in the variable response to drugs depending on the genetic constitution of an individual. Depending on the genetic variation in individuals known as polymorphism; leads to differences in the types of proteins, enzymes or receptors that play a role in the elimination of drugs. Investigation of the correlation between the genotype with phenotype changes in drug metabolism is among the most important topics of today. CYP2D6 gene polymorphisms show clinical efficiency in the use of especially antidepressants, neuroleptics, antiarrhythmic, antihypertensive, beta blocker, and morphine derivatives. Poor metabolizers have been shown to demonstrate adverse drug reactions to these drugs. The plasma concentrations tend to increase inducing side effects after using a standard dose in poor metabolizers. The ratio of poor metabolizers in Caucasians is 5-10%, whereas 3.4-3.8% of the Turkish population. The allele frequencies of CYP2D6 *2, *3, *4 and *10 were found in 35%, 6%, 10% and 26% respectively in 200 healthy controls. The ratio of poor metabolizers in our population revealed as 1%. Genotyping of CYP2D6 is very important for determining a better genotype-phenotype relation.
