Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report.
J Formos Med Assoc
; 114(8): 769-73, 2015 Aug.
Article
en En
| MEDLINE
| ID: mdl-26254176
ABSTRACT
DiGeorge syndrome is not really a rare disease. A microdeletion of chromosome 22q11.2 is found in most patients. Sharing the same genetic cause, a wide spectrum of clinical manifestations such as conotruncal anomaly face syndrome, Cayler cardiofacial syndrome, and velocardiofacial syndrome have been reported. Classic characteristics are cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. We report a 6-year-old female child presenting with generalized seizure resulting from hypocalcemia. She had no cardiac defects and no hypocalcemia episode in neonatal stage, and had been said to be normal before by her parents until the diagnosis was made. This highlights the importance of extracardiac manifestations in the diagnosis of DiGeorge syndrome, and many affected patients may be underestimated with minor facial dysmorphism. As health practitioners, it is our duty to identify the victims undermined in the population, and start thorough investigations and the following rehabilitation as soon as possible. Multiplex ligation-dependent probe amplification is a rapid, reliable, and economical alternative for the diagnosis of 22q11.2 deletion.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de DiGeorge
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
J Formos Med Assoc
Asunto de la revista:
MEDICINA
Año:
2015
Tipo del documento:
Article