Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
| Autor: | Marco Cascella, Maria Rosaria Muzio |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Velocardiofacial syndrome Adolescent Síndrome velocardiofacial Tetralogía de Fallot Microdeletion syndrome Intellectual disability disorders Deterioro cognitivo Trastornos de discapacidad intelectual Cognition 22q11 Deletion Syndrome Intellectual Disability DiGeorge syndrome Intellectual disability medicine Humans Pediatrics Perinatology and Child Health Age of Onset Cognitive decline Síndrome de DiGeorge 22q11 deletion syndrome business.industry Genetic disorder Síndrome de microdeleción medicine.disease Cognitive impairment Schizophrenia Pediatrics Perinatology and Child Health Tetralogy of Fallot business Síndrome de deleción 22q11 Chromosome 22 |
| Zdroj: | Revista chilena de pediatría v.86 n.4 2015 SciELO Chile CONICYT Chile instacron:CONICYT |
| ISSN: | 0370-4106 |
| DOI: | 10.1016/j.rchipe.2015.06.019 |
| Popis: | Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|