Síndrome Jacobsen

Abstract

The objective of this titration work was to study the clinical case of a twenty-three-day-old male patient without a significant history during conception without abnormalities during prenatal controls and echocardiographic controls, derived from the Jose Maria Velasco Ibarra Hospital of the city of Tena to assessment and genetic counseling for presenting phenotypic characteristics and difficulty swallowing. Go to the Genetics service of the General Puyo Hospital for presenting difficulty swallowing and for certain phenotypic characteristics: Frontal bulge, ears of low implantation, with difference in size, hypertelorism, epicantum, micrognathia. It is assessed by a geneticist who initially requests a study of the same karyotype that is conclusive for deletion of long arm chromosome 11, and the determination of the extent of the deletion is necessary after the fluorescence in situ hybridization (FISH) test is requested, which indicates deletion. in 11q23.3 to 11qter. In addition, during subsequent follow-up appointments after diagnosis, it is evidenced that the child does not have adequate psychomotor development for his age, which is why retardation of psychomotor development is determined, this being one of the affectations that manifest as typical characteristics of this syndrome.