title: Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report.
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.
authors.affiliation: Department of Pediatrics, Far Eastern Memorial Hospital, Panchiao, Taiwan, ROC.
authors.forename: Chih-Hsuan
authors.initials: CH
authors.lastname: Fu
authors.affiliation: Division of Neonatology, Department of Pediatrics, Far Eastern Memorial Hospital, Panchiao, Taiwan, ROC. Electronic address: cheung@ms1.hinet.net.
authors.forename: Cheung
authors.initials: C
authors.lastname: Leung
authors.affiliation: Department of Pediatrics, Far Eastern Memorial Hospital, Panchiao, Taiwan, ROC.
authors.forename: Chuan-Hong
authors.initials: CH
authors.lastname: Kao
authors.affiliation: Department of Pediatrics, Far Eastern Memorial Hospital, Panchiao, Taiwan, ROC.
authors.forename: Shu-Jen
authors.initials: SJ
authors.lastname: Yeh
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D012640:Seizures / Q000209:etiology; D014057:Tomography, X-Ray Computed
keywords: DiGeorge syndrome; deletion 22q11; multiplex ligation-dependent probe amplification