Advances in the field of genetics and difficulties in the diagnosis of di george syndrome.

Introduction The spectacular progress of the last decade in field genetics is allowing a new development medicine and ability to make better diagnosis. A great example this diagnosis chromosome 22q11 deletion, which occurs 1:4000 live births. Objectives This case wants illustrate difficulties diagnosis, despite technological advances. Methods Exhaustive review literature Results 38-year-old male patient diagnosed with deletion adulthood. Family history medical problems: mother genetic adulthood, after her own son. Personal - Psychiatry: he has been followed up intermittently psychology since was 6 years old, due cognitive behavioral alterations. He had several hospital admissions psychiatry during adolescence for disorders intellectual disability, possible psychotic symptoms. In treatment antiepileptics antipsychotics. Cardiology: aortic aneurysm bicuspid valve were detected. underwent surgery 2018. Genetics: 2019. an inherited mutation maternal origin that detected later. Rheumatology: seropositive rheumatoid arthritis, non-erosive. Rehabilitation: improve psychomotor skills, from 6-12 age. It important emphasize made at age 35 years, more deep study carried out debut cardiac pathology. addition, it very striking his later than one himself. Currently, presents serious respecting rules coexistence home understanding social norms, so not able integrate any environment remains isolated home. Serious alterations tendency physical verbal heteroaggressiveness, difficulty accepting limits sexualized uninhibited behaviors. Clinical judgment: deletion. Conclusions Early essential be treat and, above all, prevent complications syndrome may present. However, sometimes complex, advances molecular diagnostic techniques. Therefore, integrative approach valuable, looking individual as whole only by systems or subspecialties. would interesting establish means communication between specialties. Finally, real step forward all information each person single record, apparently simple aspect, but far being possible. Disclosure Interest None Declared