Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.
Rev Chil Pediatr
; 86(4): 283-6, 2015.
Article
em En
| MEDLINE
| ID: mdl-26358864
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.
Palavras-chave
22q11 deletion syndrome; Cognitive impairment; Deterioro cognitivo; DiGeorge syndrome; Intellectual disability disorders; Microdeletion syndrome; Síndrome de DiGeorge; Síndrome de deleción 22q11; Síndrome de microdeleción; Síndrome velocardiofacial; Tetralogy of Fallot; Tetralogía de Fallot; Trastornos de discapacidad intelectual; Velocardiofacial syndrome
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Tetralogia de Fallot
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Cognição
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Síndrome de DiGeorge
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Deficiência Intelectual
Limite:
Adolescent
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Humans
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Male
Idioma:
En
Revista:
Rev Chil Pediatr
Ano de publicação:
2015
Tipo de documento:
Article
País de publicação:
Chile