DiGeorge phenotype in the absence of 22q11 deletion - a case report.

Autor: Taliana N; Paediatric and Mater Dei Hospital, Malta., Said E; Genetics Departments, Mater Dei Hospital, Malta., Grech V; Paediatric and Mater Dei Hospital, Malta.
Jazyk: angličtina
Zdroj: Images in paediatric cardiology [Images Paediatr Cardiol] 2017 Jan-Mar; Vol. 19 (1), pp. 8-9.
Abstrakt: DiGeorge syndrome is polytopic developmental field defect which is usually associated with 22q11.2 microdeletion. However, this phenotype may be caused by other conditions. We report such a case and briefly review these alternative causes for this particular phenotype.
Databáze: MEDLINE