[Digeorge syndrome in a new born: DEL22q11.2 IN Tuple1 Locus]
Revue Maghrebine de Pediatrie [La]. 2007; 17 (4): 197-200
en Francés
| IMEMR
| ID: emr-180610
ABSTRACT
The DiGeorge syndrome is a genetic anomaly due to the microdeletion 22q11.2. This syndrome is characterized by a large variability in the clinical features. In this report we describe a DiGeorge syndrome diagnosed in a new born of a diabetic mother. He presented mild dysmorphia, ventricular septal defect and hypocalcaemia due to hypoparathyroidism. The diagnosis was confirmed by the cytogenetic study
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Índice:
IMEMR (Mediterraneo Oriental)
Idioma:
Francés
Revista:
Rev. Maghreb. Pediatr.
Año:
2007
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