[22q11 deletion syndrome]. / 22q11-deletionssyndrom.
Ugeskr Laeger
; 172(13): 1038-46, 2010 Mar 29.
Article
en Da
| MEDLINE
| ID: mdl-20350479
ABSTRACT
22q11 deletion syndrome (formerly named CATCH22, DiGeorge, Velo-Cardio-Facial, Caylor, Kinouchi and Shprintzen syndrome) occurs in approximately 1/2000 to 4000 children. The genetic lesion is remarkably uniform, occurring mainly as 3 or 1.5 MB deletions in the 22q11.2 region. However, the clinical manifestations are variable and manifestation in several organ systems often occur. In this review we describe the various manifestations of the syndrome. Finally, we suggest strategies for diagnosing, evaluating and organizing the treatment for Danish patients with this syndrome.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de DiGeorge
Tipo de estudio:
Diagnostic_studies
/
Guideline
Límite:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Newborn
Idioma:
Da
Revista:
Ugeskr Laeger
Año:
2010
Tipo del documento:
Article
País de afiliación:
Dinamarca