The effect of hypothalamic involvement and growth hormone treatment on cardiovascular risk factors during the transition period in patients with childhood-onset craniopharyngioma

Purpose@#Hypothalamic damage may increase the risk of adulthood obesity and cardiovascular disease in patients with craniopharyngioma. We evaluated the effects of hypothalamic involvement (HI) and growth hormone (GH) discontinuation on cardiovascular risk factors during the transition period in patients with childhood-onset craniopharyngioma. @*Methods@#Thirty-three patients (17 males, 16 females) underwent retesting for adult GH deficiency (GHD) between 2005 and 2020 at Seoul National University Children's Hospital. Postoperative HI was graded by Puget's criteria and data regarding GH replacement were collected. At retesting, body mass index (BMI), fasting blood glucose, insulin, high-density lipoprotein cholesterol (HDL-C), triglycerides, and blood pressure were assessed. @*Results@#The mean age of commencement and discontinuation of GH replacement for childhood GHD was 10.0±3.6 and 15.3±3.1 years, respectively. The mean age at retesting for adult GHD was 17.7±2.5 years. When patients were categorized by post-GH discontinuation duration, those with durations >6 months (n=27) showed lower HDL-C levels than those with <6 months (P=0.037). Patients with extensive HI (n=16) had higher BMI z-scores than did those with no HI or mild HI (P=0.020). Both the extent of HI and longer post-GH discontinuation duration were significantly predictive for decreased HDL-C levels (P<0.05, for both). @*Conclusion@#The extent of HI and GH discontinuation duration during the transition period can increase cardiovascular risks in patients with childhood-onset craniopharyngioma.

Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient’s karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Impact of the COVID-19 Pandemic on the Mental Health of Adolescent Students in Daegu, Korea

Background@#In February 2020, as coronavirus disease 2019 (COVID-19) spread rapidly in Daegu, South Korea, students in that region experienced many emotional difficulties. In this study, we analyzed the stress and emotional crisis experienced by students during the COVID-19 pandemic, its causative factors, and the factors that affect negative emotions. @*Methods@#We identified the demographic information related to the experiences of unbearable stress and emotional crisis and their causal factors at three points in time: before the pandemic, during its peak, and at the time of the survey (2–3 months after the peak). In addition, we analyzed the factors related to depression and anxiety experienced by students during the COVID-19 pandemic. The Korean version of the Patient Health Questionnaire 9 and the Korean version of the Generalized Anxiety Disorder 7 was used to assess for depressive and anxiety symptoms in the subject students, respectively. @*Results@#A total of 8,177 students participated in the analysis, with 4,072 boys (49.8%), 4,105 girls (50.2%), and 4,463 middle school students (54.6%) and 3,177 high school students (45.4%). The percentage of students who experienced unbearable stress was 9% before the COVID-19 pandemic, increased to 16% at the peak of the COVID-19 pandemic, then decreased to 12.7% at the time of the survey. Stress was experienced more by girls (18.1% versus 13.8% in boys; χ2 = 28.159, P < 0.001) and high school students (19.0% versus 13.5% in middle school students; χ2 = 45.437, P < 0.001). Overall, 7.6% experienced emotional crises during the COVID-19 pandemic, which was more prevalent in girls (10.1% versus 5.2% in boys; χ2 = 71.025, P < 0.001) and in high school students (8.8% versus 6.7% in middle school students; χ2 = 12.996, P < 0.001). Depression and anxiety was seen in 19.8% and 12.3% of students during the COVID-19 pandemic, respectively. The risk factors for depression and anxiety included unbearable stress before the COVID-19 pandemic (P < 0.001), mental health (P = 0.044), and age (P = 0.040), whereas resilience was identified as a protective factor for depression and anxiety (P = 0.001). @*Conclusion@#Students in Daegu experienced lots of mental difficulties since the COVID-19 pandemic. It will be necessary to improve stress management and resilience to improve students' mental health in disasters such as the COVID-19 pandemic.

Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

Factors Related to Motor Subtypes of Delirium Patients in a Surgical Intensive Care Unit / 임상간호연구

Purpose@#The purpose of this study was to investigate the motor subtypes of delirium in patients in a Surgical Intensive Care Unit (SICU), and identify the factors related to the characteristics of patients according to the motor subtypes of delirium. @*Methods@#Data were collected in the SICU of a tertiary hospital in * city from October 2018 to June 2019. Delirium was detected using the Confusion Assessment Method for the ICU (CAM-ICU) and motor subtypes of delirium were measured with the Delirium Motor Subtype Scale (DMSS)-4. Patients’ characteristics were obtained by using the electronic medical records. Descriptive statistics were used to analyze the data. @*Results@#Among 1,112 patients, 172 patients showed delirium (15.5%). After excluding dementia patients and patients refusing to participate in the study, 126 patients included in the final analysis. Delirium patients were classified as hyperactive delirium (32.5%), hypoactive delirium (42.9%), mixed delirium (11.9%), and non-motor subtype delirium 12.7%). @*Conclusion@#The study results suggest that hypoactive delirium is the most prevalent motor subtype of delirium in SICU. More application of ventilators, more administration of sedatives, more use of catheters, and higher nursing severity were reported for hypoactive delirium cases than hyperactive ones. Therefore, it is necessary to assess early the motor subtypes of delirium using structured tools and develop appropriate nursing interventions suitable for each subtype of delirium.

Analysis of characteristics of patients who come to ‘emergency medical center via one-stop treat system for heavily drunken people’

Objective@#This study described the effectiveness of the one-stop treat system (OTS) and the improvements characterizing the patients who come to an emergency medical center via the one-stop treat system for heavily drunken people @*Methods@#An observational retrospective study was conducted on patients, aged 19 years or older, who visited the emergency department (ED) from January 2014 to December 2017 with alcohol intoxication (AI). The subjects were divided into two groups, that is, AI patients who come to ED directly or those who came via OTS. We compared and analyzed the characteristics of two groups including gender, age, date, mode of the ED visit, level of consciousness, diagnosis, ED length of stay (LOS), hospital LOS, and final outcomes. @*Results@#A total of 8,144 patients were enrolled in the study. There were 2,221 AI patients who visited ED directly and 5,923 AI patients who visited ED via OTS. Patients arriving via OTS had more medical or surgical problems than the patients who came directly from the ED. Discharged patients via OTS showed a longer ED LOS (312 minutes [range, 169-520 minutes], P<0.001). Compared with patients who came directly from ED, the patients via OTS showed a higher admission rate (10.7% vs. 3.4%, respectively; P<0.001), and a higher death rate in ED (0.6% vs. 0%, respectively; P<0.001). @*Conclusion@#Compared the characteristics of the patients from ED directly in 2014-2017, the patients via OTS had higher severity and admission rate, and a longer ED LOS. Our findings suggest that we should pay attention to patients via OTS because the patients have high severity of illness.

Stress Induced Cardiomyopathy Requiring Ventricular Assist Device Support in an 8-Year-Old Girl with Acute Leukemia / 전남의대학술지

No abstract available.

Notch signaling in the collecting duct regulates renal tubulointerstitial fibrosis induced by unilateral ureteral obstruction in mice

BACKGROUND/AIMS: Mind bomb-1 (Mib1) encodes an E3 ubiquitin ligase, which is required for the initiation of Notch signaling. Recently, it was demonstrated that the renal collecting duct plays an important role in renal fibrosis. Here, we investigated the role of Notch signaling in renal fibrosis using conditional knockout mice with the specific ablation of Mib1 in renal collecting duct principal cells. METHODS: Mib1-floxed mice (Mib1f/f ) were crossed with aquaporin 2 (AQP2)-Cre mice in order to generate principal cell-specific Mib1 knockout mice (Mib1f/f :AQP2-Cre+). Unilateral ureteral obstruction (UUO) was performed, and mice were sacrificed 7 days after UUO. RESULTS: After performing the UUO, renal tubulointerstitial fibrosis and the expression of transforming growth factor β were markedly enhanced in the obstructed kidneys of Mib1f/f mice compared with the sham-operated kidney of Mib1f/f mice. These changes were shown to be even more pronounced in the obstructed kidneys of Mib1f/f :AQP2-Cre+ mice than in those of the Mib1f/f mice . Furthermore, the number of TUNNEL-positive cells in renal collecting duct was higher in the obstructed kidneys of Mib1f/f :AQP2-Cre+ mice than in the kidneys of Mib1f/f mice. CONCLUSIONS: Notch signaling in the renal collecting duct plays an important role in the regulation of renal tubulointerstitial fibrosis and apoptosis after UUO.

Acaulosproa koreana, a New Species of Arbuscular Mycorrhizal Fungi (Glomeromycota) Associated with Roots of Woody Plants in Korea

A new species of arbuscular mycorrhizal fungi (Glomeromycota), Acaulospora koreana, was isolated from forest soils in South Korea. This novel fungus was collected from the rhizosphere of Lindera obtusiloba and Styrax obassia in forest and propagated with Sorghum bicolor in pot. Morphological characteristics of spores of A. koreana are rarely distinguished from Acaulospora mellea, which is reported as one of the most abundant mycorrhizal species in Korea. However, molecular evidence of rDNA sequence using improved primers for glomeromycotan fungal identification strongly supported that A. koreana is different from A. mellea but also any other species belonging to the genus Acaulospora. This is the first novel glomeromycatan fungus introduced in South Korea, but it suggests that there is a high possibility for discovering new arbuscular mycorrhizal fungi considering the abundance of plant species and advanced phylogenetic analysis technique.

Male Infertility Associated with a Supernumerary Marker Chromosome

A marker chromosome (mar) is a structurally abnormal chromosome in which no part can be identified. The significance of a marker varies, depending on the material contained within the marker. Very few reports have been published of marker chromosomes associated with male infertility. Here, we report the case of an infertile man with a rare variant of a marker chromosome of a mos 47,XY,+mar[25]/46,XY[25] karyotype.

The correlation of depression with Internet use and body image in Korean adolescents / 소아과

PURPOSE: To examine the correlation of depression with Internet use and body image perception, and to analyze the risk factors of depression in a total of 920 students in Seoul, Korea. METHODS: Students were recruited by contacting school principals and teachers and were encouraged to fill out a self-report questionnaire designed specifically for this study in July of 2008. RESULTS: Female participants had an increased risk for depression than did male participants (adjusted odds ratio [aOR], 1.790; 95% confidence interval [CI], 1.330–2.410, P<0.001). Older students were more susceptible to depression (aOR, 1.246; 95% CI, 1.115–1.392, P<0.001). Longer daily Internet use and more frequent Internet use were analyzed as risk factors for depression. No physical activity was a risk factor for depression (aOR, 0.392; 95% CI, 1.264–4.526, P=0.014). Dissatisfaction with one's body image increased the risk for depression (aOR, 1.373; 95% CI, 1.169–1.613; P<0.001). Obesity and perception of body image showed no significant relationship with increased risk for depression. CONCLUSION: Prevalence of depression was 13.8% in adolescents in Seoul, Korea, in July 2008. Female sex, age, daily Internet use duration, weekly Internet use frequency, physical activity, and dissatisfaction with one's body image independently increased risk of depression.

The correlation of depression with Internet use and body image in Korean adolescents / 소아과

PURPOSE: To examine the correlation of depression with Internet use and body image perception, and to analyze the risk factors of depression in a total of 920 students in Seoul, Korea. METHODS: Students were recruited by contacting school principals and teachers and were encouraged to fill out a self-report questionnaire designed specifically for this study in July of 2008. RESULTS: Female participants had an increased risk for depression than did male participants (adjusted odds ratio [aOR], 1.790; 95% confidence interval [CI], 1.330–2.410, P<0.001). Older students were more susceptible to depression (aOR, 1.246; 95% CI, 1.115–1.392, P<0.001). Longer daily Internet use and more frequent Internet use were analyzed as risk factors for depression. No physical activity was a risk factor for depression (aOR, 0.392; 95% CI, 1.264–4.526, P=0.014). Dissatisfaction with one's body image increased the risk for depression (aOR, 1.373; 95% CI, 1.169–1.613; P<0.001). Obesity and perception of body image showed no significant relationship with increased risk for depression. CONCLUSION: Prevalence of depression was 13.8% in adolescents in Seoul, Korea, in July 2008. Female sex, age, daily Internet use duration, weekly Internet use frequency, physical activity, and dissatisfaction with one's body image independently increased risk of depression.

Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

Clinical evaluation of anesthesia for cesarean section at tertiary medical center: retrospective study for 5 years (2009-2013)

BACKGROUND: Cesarean section anesthesia requires adequate preparation because of maternal physiologic changes, a higher risk for massive maternal bleeding, neonatal considerations, and a higher frequency of emergency operations. Therefore, we retrospectively compared clinical outcomes of cesarean section patients between a high-risk group and non-high-risk group in order to improve anesthesia care. METHODS: We reviewed medical records from cesarean section cases at our tertiary medical center for 5 years (2009-2013). Parameters included the anesthesia and operative time; estimated blood loss, fluid volume and blood products administered during surgery, additional administration of maternal uterotonic medications; as well as the birth weight, Apgar scores, number of neonatal intensive care unit (NICU) admissions, and stillbirth rates of the neonate. RESULTS: The total number of delivery cases was 1935 during the 5 years, and the cesarean section cases accounted for 58.8% (1,138 cases). There were 735 emergency surgery cases (64.6%), and 813 (71.4%) patients were in the high-risk group. Estimated blood loss, fluid volume used, and the frequency and amount of blood transfusions were statistically higher in the high-risk group. Among 1,243 neonates, 918 (73.9%) were born from high-risk mothers. Neonatal birth weights and Apgar scores (1 and 5 minutes) from patients in the high-risk group were statistically lower than those in the non-high-risk group, and NICU admissions and stillbirths were statistically higher in the high-risk group. CONCLUSIONS: Anesthesiologists should be aware of unfavorable clinical outcomes in high-risk cesarean section groups and carefully prepare for anesthesia care in these cases.

Flexible bronchoscopic foreign body removal through the I-gel supraglottic airway: A case report

The daily insertion of endotracheal tubes, laryngeal mask airways, oral/nasal airways, gastric tubes, transesophageal echocardiogram probes, esophageal dilators and emergency airways all involve the risk of airway structure damage. In the closed claims analysis of the American Society of Anesthesiologists, 6% of all claims concerned airway injury. Among the airway injury clams, the most common cause was difficult intubation. Among many other causes, esophageal stethoscope is a relatively noninvasive monitor that provides extremely useful information. Relatively not many side effects that hardly is ratable. Some of that was from tracheal insertion, bronchial insertion resulting in hypoxia, hoarseness due to post cricoids inflammation, misguided surgical dissection of esophagus. Also oropharyngeal bleeding and subsequent anemia probably are possible and rarely pharyngeal/esophageal perforations are also possible because of this device. Careful and gentle procedure is necessary when inserting esophageal stethoscope and observations for injury and bleeding are needed after insertion.

Relationships between fractional exhaled nitric oxide levels and FEF25%-75% in children with asthma

PURPOSE: Fractional exhaled nitric oxide (FeNO) is considered an indirect marker of airway inflammation, and forced expiratory flow between 25% and 75% of vital capacity (FEF25%-75%) is widely used as a sensitive indicator of small airway obstruction in asthma. The aim of this study was to investigate relationships between FeNO and FEF25%-75% in children with asthma. METHODS: A total of 118 children with asthma underwent spirometry and measurement of eosinophil markers. FeNO levels were measured, and skin prick tests to 13 common allergens were done. Study subjects were divided into 2 groups according to FEF25%-75% values (group 1, normal FEF25%-75%> or =65%pred, n=90; group 2, impaired FEF25%-75%<65%pred, n=28). RESULTS: The mean (+/-standard deviation, SD) age was not significantly different between groups 1 and 2 (10.3+/-2.8 years vs. 11.1+/-3.4 years), and the sex ratio was also not significantly different between 2 groups. The geometric mean (range of 1 SD) concentration of FeNO was significantly higher in group 2 than in group 1 (25.8 ppb [14.2-46.9 ppb] vs. 37.2 ppb [24.2-57.2 ppb], P=0.008). A significant inverse correlation between FeNO and FEF25%-75% was observed in group 2 (r=-0.493, P=0.038), but not in group 1 (r=-0.037, P=0.749) after adjustment for confounders, such as atopy, age, sex, weight, and height. CONCLUSION: FeNO levels were higher in group of asthmatic children with impaired FEF25%-75% level. FeNO levels were inversely correlated with FEF 25%-75% only in impaired small-airway obstruction group after adjustment for atopy. These results suggest that small-airway obstruction may relate more closely to airway inflammation in asthmatic children with impaired small-airway function.

Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women

PURPOSE: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. MATERIALS AND METHODS: The CGG repeats in the FMR1 genes of 1,408 women were analyzed by polymerase chain reaction and Southern blot analysis. To estimate the prevalence of expansion alleles, the individuals were divided into low risk and high risk group. RESULTS: Within this population, 98.4% had normal alleles and 1.6% had abnormal alleles including intermediate (0.6%), premutation (0.5%), full mutation (0.1%), and hemizygous (0.4%) alleles. There were 2 premutation alleles (1:666, 95% confidence interval [CI] 1:250-1,776) in the low risk group and 5 premutation alleles (1:15, 95% 1:6-36) in the high risk group. There were 8 intermediate alleles (1:167, 95% CI 1:130-213) in the low risk group and 1 intermediate alleles (1:76, 95% CI 1:11-533) in the high group. Six of the 7 premutation alleles did not contain AGG interruptions within the repeats and 1 had a single AGG interruption. Four of the 9 intermediate alleles contained 2-3 AGG, 4 had a single AGG, and 1 had no AGG interruptions. CONCLUSION: Our study demonstrates the prevalence and CGG/AGG structure of expansion alleles in Korean women. The identified premutation prevalence is higher than that of other Asian populations and lower than that of Caucasian populations. Although our study is limited by size and population bias, our findings could prove useful for genetic counseling of preconceptional or pregnant women.

Expression of Phosphatase and Tensin Homologue, phospho-Akt, and p53 in Acral Benign and Malignant Melanocytic Neoplasms (Benign Nevi, Dysplastic Nevi, and Acral Melanomas)

BACKGROUND: The role of the phosphatidylinositol-3 kinase signaling pathway in the development of acral melanoma has recently gained evidence. Phosphatase and tensin homologue (PTEN), one of the key molecules in the pathway, acts as a tumor suppressor through either an Akt-dependent or Akt-independent pathway. Akt accelerates degradation of p53. OBJECTIVE: We assessed the expression of PTEN, phospho-Akt (p-Akt), and p53 by immunohistochemistry in benign acral nevi, acral dysplastic nevi, and acral melanomas in the radial growth phase and with a vertical growth component. METHODS: Ten specimens in each group were included. Paraffin-embedded specimens were immunostained with antibodies for PTEN, p-Akt, and p53. We scored both the staining intensity and the proportion of positive cells. The final score was calculated by multiplying the intensity score by the proportion score. RESULTS: All specimens of benign acral nevi except one showed some degree of PTEN-negative cells. The numbers of p-Akt and p53-positive cells were higher in acral dysplastic nevi and melanoma than in benign nevi. P-Akt scores were 1.7, 1.8, 2.6, and 4.4, and p53 scores were 2.0, 2.1, 3.8, and 4.1 in each group. PTEN and p-Akt scores in advanced acral melanoma were higher than in the other neoplasms. CONCLUSION: The expression of PTEN was decreased and the expression of p-Akt was increased in acral melanoma, especially in advanced cases. The PTEN-induced pathway appears to affect the late stage of melanomagenesis. Altered expression of p-Akt is thought to be due to secondary changes following the loss of PTEN.

Qualitative assessment of precocious puberty-related user-created contents on YouTube

PURPOSE: User-created content (UCC) has provided a considerable amount of medical information and become an important source. We aimed to evaluate the quality and scientific accuracy of precocious puberty-related UCC on YouTube. METHODS: The keywords "precocious puberty", "early puberty", "sexual precocity", and "precocity" were searched for on YouTube during June and July 2014. More than 1,500 UCC matched the keywords. According to the information provider, UCC was classified as medical, oriental, or commercial & others. We evaluated the quality and scientific accuracy of the information provided in UCC using the DISCERN instrument and information scores, respectively. RESULTS: We selected 51 UCC, which were categorized into three types: medical (n=17), oriental (n=17), or commercial & others (n=17). The overall quality score for medical UCC (3.4) was significantly higher relative to those of oriental and commercial & others UCC (2.8 and 2.3, respectively) (P<0.001). In the assessment of scientific accuracy, the mean information score for medical UCC (30.7) was significantly higher than those of oriental and commercial & others UCC (15.9 and 5.1, respectively) (P<0.001). The mean duration of oriental UCC was the longest (P<0.001), however, it was viewed less frequently among them (P=0.086). CONCLUSION: The quality and accuracy of precocious puberty-related health information in UCC were variable and often unreliable. The overall quality of UCC regarding precocious puberty was moderate. Only medical UCC provided scientifically accurate information. As UCC becomes a popular source of health information, it is important to provide reliable, scientifically accurate information.

MEF2C-Related 5q14.3 Microdeletion Syndrome Detected by Array CGH: A Case Report

Genetic screening is being widely applied to trace the origin of global developmental delay or intellectual disability. The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. We present the case of a 6-year-old girl, who is the first patient in Korea with de novo interstitial microdeletions involving 5q14.3, showing the typical clinical features of 5q14.3 microdeletion syndrome with a smaller size of chromosomal involvement compared to the previous reports. The microdeletion was not detected by subtelomeric multiplex ligation-dependent probe amplification, but by array comparative genomic hybridization, which is advisable for the detection of a small-sized genetic abnormality.