The deletion 22q13 syndrome (Phelan-McDermid syndrome) is a rare microdeletion syndrome characterized by prominent neurobehavioral deficits including neonatal hypotonia, developmental delay, language delay, autism, and minor dysmorphic features. Due to nonspecific facial features and difficulties in detection in routine chromosome analysis, this chromosome deletion syndrome has gone under-diagnosed. Fluorescence in situ hybridization (FISH) is required to confirm the presence of this deletion. Here we report the first case of 22q13 deletion syndrome in Korea. An 18-month-old girl was admitted to a pediatric clinic due to severe developmental delay and hypotonia from the neonatal period. She was diagnosed as 22q13 deletion syndrome through a chromosomal analysis and FISH using arylsulfatase A probe.
Autistic Disorder ; Cerebroside-Sulfatase ; Chromosome Deletion ; Developmental Disabilities ; Fluorescence ; Humans ; In Situ Hybridization ; Infant ; Korea ; Language Development Disorders ; Muscle Hypotonia

PURPOSE: Excluding RSV, the relationship between bronchiolitis caused by viruses and the development of wheezing and atopy in childhood has not been well studied. We studied this relationship in children who had bronchiolitis caused by human bocavirus before 2 years of age. METHODS: We retrospectively investigated 2,430 throat swab obstained between January 2005 and December 2007 from pediatric in-patients with acute respiratory tract disease at the Kwangju Christian Hospital. Human bocavirus was detected in 112 patients. A total of 61 patients less than 2 years of age were finally enrolled in this study. Patients were followed up between April and June of 2008. We measured the frequency of wheezing and atopic status using (allergy skin-prick tests, CAP tests and MAST tests). RESULTS: Of the 61 patients, 16 (26.2%) had recurrent wheezing. Of these 16 patients, 8 (13.1%) had Infrequent wheezing (1-2 wheezing episodes) and 8 (13.1%) had frequent wheezing (3 and over wheezing episodes). Of the total 61 patients, 18 (29.5%) completed allergy tests. Of the 18 patients, 10 (55.6%) were sensitized to at least 1 allergen. Recurrent wheezing was significantly associated with the severity of bronchiolitis (mild vs. moderate vs. severe; 9.1% vs. 22.2% vs. 66.7%). CONCLUSION: Human bocavirus-induced bronchiolitis in childhood are an independent risk factor for development of wheezing in childhood and may be associated with an increased risk of allergic sensitization. The most important risk factor for recurrent wheezing is the severity of lower respiratory tract illnesses.
Bronchiolitis ; Child ; Human bocavirus ; Humans ; Hypersensitivity ; Korea ; Pharynx ; Respiratory Sounds ; Respiratory System ; Respiratory Tract Diseases ; Retrospective Studies ; Risk Factors