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1.
Article de Anglais | WPRIM | ID: wpr-977203

RÉSUMÉ

Porocarcinoma is a malignancy of the eccrine sweat gland. It may arise de novo or develop from pre-existing poroma and hidroacanthoma simplex. A 56-year-old woman was presented with a pinkish plaque on her left posterior thigh. She was diagnosed with hidroacanthoma simplex 6 years ago, and the same lesion had changed in size and shape. Histopathology revealed intraepidermal proliferation of small-sized basaloid cells, continuing to the proliferation of large polygonal tumor cells. This malignant transformation was consistent with the change in p53 expression pattern. The patient underwent wide excision with clear resection margin, and no evidence of recurrence was noted. We highlight this case in that the transition from hidroacanthoma simplex to porocarcinoma in situ was confirmed in the same tissue, as demonstrated by immunohistochemical staining.

2.
Article de Anglais | WPRIM | ID: wpr-1001181

RÉSUMÉ

Background@#In pediatric patients, the common cold coronavirus (ccCoV) usually causes mild respiratory illness. There are reports of coronavirus causing central nervous system (CNS) infection in experimental animal models. Some immunocompromised patients have also been reported to have fatal CNS infections with ccCoV. The aim of this study was to investigate the clinical characteristics of CNS complications related to ccCoV infection. @*Methods@#From January 2014 to December 2019, a retrospective analysis was performed of medical records from hospitalized patients under 19 years of age whose ccCoV was detected through polymerase chain reaction in respiratory specimens. The CNS complications were defined as clinically diagnosed seizure, meningitis, encephalopathy, and encephalitis. @*Results@#A total of 436 samples from 420 patients were detected as ccCoV. Among the 420 patients, 269 patients were immunocompetent and 151 patients were immunocompromised.The most common type of ccCoV was OC43 (52% in immunocompetent, 37% in immunocompromised). CNS complications were observed in 9.4% (41/436). The most common type of CNS complication was the fever-provoked seizure under pre-existing neurologic disease (42% in immunocompetent and 60% in immunocompromised patients).Among patients with CNS complications, two immunocompetent patients required intensive care unit admission due to encephalitis. Three patients without underlying neurological disease started anti-seizure medications for the first time at this admission. There was no death related to ccCoV infection. @*Conclusion@#ccCoV infection may cause severe clinical manifestations such as CNS complications or neurologic sequelae, even in previously healthy children.

3.
Annals of Dermatology ; : S314-S316, 2023.
Article de Anglais | WPRIM | ID: wpr-1040302

RÉSUMÉ

Lowe syndrome (LS), also known as oculocerebrorenal syndrome, is an X-linked multisystemic disorder caused by mutations in OCRL1, which encodes a member of the inositol-5-phosphatase family. As implied by its name, congenital cataracts, defects in the central nervous system, and renal manifestations are the main symptoms. Early hidradenitis suppurativa (HS) occurrence in Dent disease 2 (DD2), which is a mild variant of LS and shares the OCRL1 gene mutation, has been reported, although not in LS patients. Here, we report a case of HS in a 17-year-old boy with genetically confirmed LS, which suggests that defects in the OCRL1 gene may contribute to HS pathogenesis.

4.
Mycobiology ; : 256-263, 2023.
Article de Anglais | WPRIM | ID: wpr-1041726

RÉSUMÉ

Species in the genus Trametes (Basidiomycota, Polyporales) have been used in natural medicine for a long time. Many studies reported that mycelia or fruiting bodies of Trametes spp. exhibited effects of antioxidant, anti-inflammatory, anticancer, and antimicrobial activities.However, comparative analysis in this genus is scarce due to limitation of morphological identification and the sample number. In this study, the 19 strains of seven Trametes species were chosen to generate a five-gene-based phylogeny with the 31 global references. In addition, 39 culture extracts were prepared for 13 strains to test for anticancer and antibacterial activities. Strong anticancer activities were found in several extracts from T. hirsuta and T. suaveolens. Anticancer activities of T. suaveolens, T. cf. junipericola and T. trogii were first described here. The antibacterial ability of T. versicolor and T. hirsuta extracts has been confirmed. The antibacterial activities of T. suaveolens have been reported at the first time in this study. These results suggest an efficient application of the genus Trametes as the drug resources especially for anticancer agents.

5.
Laboratory Animal Research ; : 337-344, 2022.
Article de Anglais | WPRIM | ID: wpr-968330

RÉSUMÉ

Background@#Fameyes (a mixture of Clematis mandshurica Rupr. extract (CMRE) and Erigeron annuus (L.) Pers. extract (EAPE)) containing scutellarin and chlorogenic acid as major components has been reported to relieve mental stress in human subjects, which is reflected in improved scores in psychometric tests measuring levels of depression, anxi‑ ety, well-being, and mental fitness. The aim of this study was to examine the anti-stress activity of Fameyes and to investigate the mechanisms of the anti-stress activity using in vitro and in vivo models of stresses. @*Results@#First, we tested the effect of Fameyes on corticosterone-induced cytotoxicity in SH-SY5Y cells (human neurofibroma cell lines). Corticosterone induced apoptosis and decreased cell viability and mitochondrial membrane potential, but treatment with Fameyes inhibited these cytotoxic effects in a dose-dependent manner. However, CMRE and EAPE (components of Fameyes) did not inhibit the cytotoxic effect of corticosterone individually. Next, we tested the effects of Fameyes on rats that were exposed to different kinds of stresses for four weeks. When the stressed rats were treated with Fameyes, their immobility time in forced swim and tail suspension tests decreased. A reduction was also observed in the serum levels of adrenocorticotropic hormone (ACTH) and corticosterone. Furthermore, upon oral administration of Fameyes, serum serotonin levels increased. These in vitro and in vivo results support the anti-stress effects of Fameyes. @*Conclusions@#In vitro experiments showed anti-stress effects of Fameyes in cell viability, apoptosis, and mitochon‑ drial membrane potential. In addition, in vivo experiments using rats showed anti-stress effects of Fameyes in blood and tissue levels of ACTH, corticosterone, and serotonin, as well as the immobility time in the forced swim and tail sus‑ pension tests. However, we did not specifically investigate which ingredient or ingredients showed anti-stress effects, although we reported that Fameyes contained chlorogenic acid and scutellarin major ingredients.

6.
Asian Oncology Nursing ; : 235-244, 2022.
Article de Anglais | WPRIM | ID: wpr-966346

RÉSUMÉ

Purpose@#This study was a descriptive study to identify the factors affecting nurses' care burden of patients with hematologic neoplasm (PHN) in the intensive care unit (ICU). @*Methods@#A total of 139 ICU nurses were enrolled and data were collected using self-report questionnaires about compassion satisfaction, compassion fatigue, nursing work performance, and the care burden of PHN. Data were analyzed using the independent t-test and one–way analysis of variance, Pearson's correlation coefficient, and hierarchical regression analysis. @*Results@#The average of nurses’ care burden of PHN was 35.75 points in the ICU. Analyzing the correlations among the main variables showed that the care burden of PHN showed a negative correlation with compassion satisfaction and nursing work performance, and a positive correlation with compassion fatigue. We noted that the compassion satisfaction showed a negative correlation with burnout and a positive correlation with nursing work performance. The factor affecting the care burden of PHN was burnout (β=.30, p=.019), and showed a significant explanatory power of 16.0% (F=7.37, p<.001) @*Conclusion@#Efforts such as policies and nurse support programs are needed to reduce burnout, a factor that affects care burden of PHN in intensive care nurses.

7.
Article de Anglais | WPRIM | ID: wpr-915389

RÉSUMÉ

Purpose@#This study sought to compare needle fenestration with a corticosteroid injection for the treatment of chronic plantar fasciitis. We hypothesized that needle fenestration would be as effective as a corticosteroid injection while avoiding the potential adverse effects of the corticosteroid. @*Materials and Methods@#Forty female patients with unilateral chronic plantar fasciitis who did not respond to a minimum of 6 months of various conservative treatments were prospectively randomized to receive either a corticosteroid injection or needle fenestration. Visual analogue scale and American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot score were used for all patients before treatment and at 3-, 6-, and 12-month following treatment. @*Results@#The corticosteroid injection group had a before-treatment average AOFAS Ankle-Hindfoot score of 56.4, which increased to 87.3 at 3 months and 78.2 at 6 months after treatment but decreased to 62.4 at 12 months. The needle fenestration group had a before treatment average AOFAS ankle-hindfoot score of 49.5, which increased to 77.8 at 3 months and 92.1 at 6 months after treatment and remained at a high score of 89.4 at 12 months. There were no complications in either group. @*Conclusion@#In the treatment of chronic plantar fasciitis, needle fenestration is as effective at 3- and 6-month post-treatment as a corticosteroid injection. Also, unlike a corticosteroid, its effect remains until 12 months post-treatment.

8.
Article de Anglais | WPRIM | ID: wpr-917567

RÉSUMÉ

Background@#The need for regulatory science development to evaluate advanced regulatory products is gradually increasing without hindering the technological development. Creating a research environment and fostering experts through the establishment of regulatory agency-led policies are essential for the development of regulatory science. Method: This is a comparative study of the United States, Japan, Singapore, and Korea. The literature and websites of each regulatory agency were reviewed, and the focus was on advantages and comparing advantages based on definition, development trends, and expert training projects. @*Results@#The United States is striving to develop regulatory science in response to changes in the new pharmaceutical industry through the regulatory science report, and to foster expert both inside and outside the Food and Drug Administration (FDA). Japan is promoting regulatory science centered on regulatory science centers, and is focusing on researching work-related regulatory science within the Pharmaceuticals and Medical Devices Agency (PMDA) and improving employees’ ability to make regulatory decisions. Singapore was aiming to improve Southeast Asia’s regulatory capabilities under the leadership of Centre of Regulatory Excellence (CoRE) within Duke-NUS University. In 2021, Korea is in its early stages, starting to run a university's degree program related to regulatory science this year. @*Conclusion@#Regulatory science should be developed with the aim of improving the regulatory ability of the Ministry of Food and Drug Safety with Korea’s independent concept of regulatory science.

9.
Mycobiology ; : 86-88, 2021.
Article de Anglais | WPRIM | ID: wpr-875322

RÉSUMÉ

The monokaryotic strain, Schizophyllum commune strain IUM1114-SS01, was generated from a basidiospore of dikaryotic parental strain IUM1114. It even showed the decolorizing activities for several textile dyes much better than its parental strain. Based on the results of a single-molecule real-time sequencing technology, we present the draft genome of S. commune IUM1114-SS01, comprising 41.1 Mb with GC contents of the genome were 57.44%.Among 13,380 protein-coding genes, 534 genes are carbon hydrate-active enzyme coding genes.

10.
Article | WPRIM | ID: wpr-830130

RÉSUMÉ

Background@#Decreased glomerular filtration rate (GFR) was associated with increased mortality and decreased quality of life in previous studies. In Korean adults, the prevalence rates of cardiometabolic risk factors are higher in women than in men after middle age. We evaluated the association between cardiometabolic risk factors and decreased GFR in Korean women. @*Methods@#We evaluated 2,339 subjects using data from the Korea National Health and Nutrition Examination Survey VII-1 (2016) after excluding participants with GFRs of <15 mL/min/1.73 m2. Normal GFR was ≥60 mL/min/1.73 m2, and decreased GFR was 15–59 mL/min/1.73 m2. Socioeconomic status, lifestyle factors, body mass index, waist circumference, and comorbidities were evaluated to analyze the association between cardiometabolic risk factors and decreased GFR. The odds ratio (OR) and 95% confidence interval (CI) were calculated using multivariate logistic regression analyses. @*Results@#As age increased, the OR for decreased GFR increased. In comparison with women with waist circumferences of <85 cm, the women with waist circumferences of ≥85 cm (OR, 1.94; 95% CI, 1.22–3.10) had a significant increase in the OR for decreased GFR. In women with diabetes mellitus, the OR for decreased GFR significantly increased (OR, 3.14; 95% CI, 1.70–5.81). @*Conclusion@#Decreased GFR was associated with age, abdominal obesity, and diabetes mellitus in Korean women. Control of abdominal obesity and appropriate management of diabetes mellitus are needed to prevent chronic kidney disease in Korean women.

11.
Article | WPRIM | ID: wpr-836059

RÉSUMÉ

Background@#Two methods of counting cells in body fluids were compared;manual counting using a Neubauer chamber, and automated cell countingusing an XN-350 hematology analyzer. @*Methods@#Cells from 32 body fluid samples were counted by manualexamination and by an automated analyzer. Total cells (TC), white bloodcells (WBC), red blood cells (RBC), polymorphonuclear leukocytes (PMN),mononuclear leukocytes (MN), neutrophils, lymphocytes, monocytes, andeosinophils were each counted by both methods. The results were comparedusing the Pearson correlation test, Bland-Altman regression analysis, andPassing-Bablok regression analysis. @*Results@#The two methods showed very strong correlation in TC, WBC,RBC, PMN, and MN counts, strong correlation in % neutrophils, and %lymphocytes, and weak correlation in % monocytes and % eosinophils.Using Bland-Altman regression analysis, the mean biases for TC, WBC, andRBC were -270, -257.4, and -1,256.09, respectively, and 0.15 for PMN andMN. Research parameters were compared as well: mean biases were -1.31,-2.46, -5.16, and -3.58 for % neutrophils, % monocytes, % lymphocytes,and % eosinophils, respectively. Passing-Bablok regression equationswere y=1.039x+20, y=1.037x+19, y=1.259x+0.0, y=0.983x+1.541, andy=0.983x+0.125 for TC, WBC, RBC, PMN, and MN, respectively. The equationswere y=0.955x+2.194 for % neutrophils, y=0.965x+1.184 for % monocytes,y=1.003x+0.161 for % lymphocytes, and y=x+0.75 for % eosinophils. @*Conclusions@#WBC differential count results performed by an automatedhematology analyzer generally show good correlation with our referencemethod, Neubauer chamber counting.

12.
Article | WPRIM | ID: wpr-836063

RÉSUMÉ

Background@#In this study, we aim to examine the effects of pre-analytical factors such as specimen type (serum or plasma), collection and storage conditions, and time, on the results of chemiluminescence immunoassay. @*Methods@#Blood samples were collected from 10 individuals and aliquoted into two sets of K3-ethylenediaminetetraacetic acid (EDTA) and serumseparating tubes (SST) each, for plasma and serum collection, respectively.For all the samples, one set of tubes was centrifuged within 1 hour and other set was centrifuged after 4 hours, followed by cell separation.Chemiluminescence assay was performed for adrenocorticotropic hormone (ACTH), parathyroid hormone (PTH), osteocalcin, C-telopeptide, and insulin at 0, 6, 24, and 48 hours after centrifugation; all the samples were assayed in duplicate. The samples were stored at 4℃ before the assay. @*Results@#The results obtained showed that the levels detected in plasmas were more consistent and stable as compared to serum. After a 6-hour storage at 4℃, a significant decrease was observed in the levels of ACTH and osteocalcin in plasma and serum; whereas, PTH and C-telopeptide levels were stable in plasma but decreased significantly in serum. Insulin levels in serum showed a decrease after a 6-hour storage while the levels in plasma were found to be stable until 24-hour storage. Serum samples separated after 4 hours showed a significant decrease in all hormone levels, while C-telopeptide and insulin levels were stable in plasma samples separated after 4 hours. @*Conclusions@#The results were found to be more stable in plasma samples from K3-EDTA tubes as compared to serum samples from SST in the measurement of unstable biological analytes. These results suggest that K3-EDTA tubes are preferable in the specimen collection for assaying biological analytes.

15.
Article de Coréen | WPRIM | ID: wpr-787486

RÉSUMÉ

BACKGROUND: Although the electronic cigarette (e-cigarette) market is growing rapidly, few studies have been conducted on e-cigarettes in South Korea. This study aims to analyze the general characteristics of Korean adult smokers with e-cigarette use.METHODS: This study used data from the 6th National Health and Nutrition Survey (NHANS). Multivariate logistic regression analysis was conducted to examine subjects' general characteristics and a questionnaire related to smoking cessation, stress perception, and depression. A frequency analysis of reasons for using e-cigarettes was conducted of 318 subjects of the 2015 NHANS who were smokers and used e-cigarettes.RESULTS: The study found that smokers with experience using e-cigarettes were younger and had a higher income level (odds ratio [OR], 1.45; 95% confidence interval [CI], 1.03–2.05) than smokers without e-cigarette experience. Professional, management, and office worker groups were associated with e-cigarette use (OR, 1.40; 95% CI, 1.10–1.77). Willingness to quit smoking was also higher in subjects with experience using e-cigarettes (OR, 1.35; 95% CI, 1.09–1.68). The most common reason for smoking cessation in both groups was concern about their own and their family's health. About 50% of smokers with experience using e-cigarettes thought e-cigarettes would be more helpful for smoking cessation than regular cigarettes.CONCLUSION: Although the safety and rationale of using e-cigarettes as a smoking cessation aid are unproven, many smokers consider them a method of smoking cessation. It is necessary to provide correct information on e-cigarettes.


Sujet(s)
Adulte , Humains , Dépression , Dispositifs électroniques d'administration de nicotine , Corée , Modèles logistiques , Méthodes , Enquêtes nutritionnelles , Fumée , Fumer , Arrêter de fumer , Produits du tabac
16.
Article de Coréen | WPRIM | ID: wpr-713613

RÉSUMÉ

BACKGROUND: Different age groups may have different reference intervals. However, the currently used reference interval for complete blood count (CBC) in clinical laboratories is based on results from healthy adults between 20 and 50 years of age. In this study, we aimed to establish reference intervals for 16 CBC parameters in Korean healthy elderly individuals. METHODS: A total of 3,359 healthy adults were selected from 4,253 adults (aged ≥20 years) who underwent regular health check-ups, based on a medical examination by interview. The reference intervals for CBC in two groups (aged <60 and ≥60 years), and the partitioning of reference intervals between the two age groups were established. RESULTS: Most CBC parameters showed no significant differences in reference intervals between the two age groups. Among the men, platelet distribution width (PDW) was the only parameter that required a separate reference interval between the two age groups. Among the women, mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), red cell distribution width (RDW), and eosinophil % required separate reference intervals between the two age groups. CONCLUSIONS: The reference intervals for most CBC parameters were not significantly different between the two age groups. Except for PDW in men and MCV, MCHC, RDW, and eosinophil % in women, reference intervals for CBC parameters in individuals younger than 60 years of age could also be applied to those that are 60 years of age or older.


Sujet(s)
Adulte , Sujet âgé , Femelle , Humains , Mâle , Hémogramme , Cellules sanguines , Plaquettes , Granulocytes éosinophiles , Index érythrocytaires
17.
Article de Anglais | WPRIM | ID: wpr-154747

RÉSUMÉ

BACKGROUND AND PURPOSE: Antiepileptic drug (AED)-associated cutaneous adverse drug reactions can lead to the discontinuation of medications. The aim of this study was to determine the long-term efficacy and safety of performing desensitization to oxcarbazepine. METHODS: This study involved 20 patients who exhibited cutaneous adverse drug reactions associated with oxcarbazepine use between July 2009 and March 2016 at Samsung Medical Center. All of the participants had to discontinue oxcarbazepine despite presenting initially positive responses. Human leukocyte antigen genotyping was performed to detect the genetic predisposition to Stevens-Johnson syndrome. The desensitization to oxcarbazepine was performed with a starting dosage of 0.1 mg/day. Efficacy was evaluated by comparing the frequency of seizures before and at 1 and 3 years after desensitization. Adverse events occurring during desensitization and the retention rate after desensitization were also investigated. RESULTS: Nineteen patients (95%) safely completed the desensitization protocol. One withdrew owing to emotional problems that appeared to be associated with oxcarbazepine. The follow-up period was 4.6±1.2 years (mean±SD), and oxcarbazepine was maintained for more than 3 years after desensitization in 15 patients (83.3%). The response rates were 84.2% and 77.8% at 1 and 3 years after desensitization, respectively. Eight patients remained seizure-free for 3 years, and two discontinued all AEDs. Transient adverse reactions such as mild rash and itching were reported by five patients during desensitization. CONCLUSIONS: This study has demonstrated the long-term efficacy and safety of desensitization to oxcarbazepine in patients exhibiting cutaneous adverse drug reactions. This favorable outcome should encourage the implementation of desensitization in patients presenting with hypersensitivity to oxcarbazepine as an alternative strategy in clinical practice.


Sujet(s)
Humains , Épilepsie pharmacorésistante , Effets secondaires indésirables des médicaments , Exanthème , Études de suivi , Prédisposition génétique à une maladie , Hypersensibilité , Leucocytes , Prurit , Crises épileptiques , Syndrome de Stevens-Johnson
18.
Article de Coréen | WPRIM | ID: wpr-167677

RÉSUMÉ

PURPOSE: Encephalitis is an inflammation affecting brain parenchyma. At the time of presentation, it may be difficult to differentiate between viral encephalitis and altered mental status or seizures during febrile illness. The aim of the present study is to identify the predictive factors and to determine the prognostic factors of viral encephalitis in children presenting as seizure with fever. METHODS: From the retrospective review of the medical records, children with seizures or altered mental status during febrile illness who presented to Samsung Medical Center between January 2008 and May 2013 were included in the study. RESULTS: 81 patients were enrolled in this study (female:male=32:49). The mean age at admission was 4.9±4.3 years (range 0–14 years old). The patients were categorized into two groups according to the clinical diagnosis: (1) Viral encephalitis (VIRAL ENC, n=66), (2) Complex febrile seizures imitating viral encephalitis(C-FS, n=15). The predictive factors of viral encephalitis were focal and/or lateralized abnormalities in electroencephalography (EEG) (P<0.001). CONCLUSION: EEG can be helpful to predict the viral encephalitis, in pediatric patient who shows delayed restoration of consciousness after seizure during febrile illness.


Sujet(s)
Enfant , Humains , Encéphale , Conscience , Diagnostic , Électroencéphalographie , Encéphalite , Encéphalite virale , Fièvre , Inflammation , Dossiers médicaux , Études rétrospectives , Crises épileptiques , Crises convulsives fébriles
19.
Article de Anglais | WPRIM | ID: wpr-71420

RÉSUMÉ

OBJECTIVE: With recent advances and frequent use of prenatal ultrasound, the antenatal diagnosis of agenesis of the corpus callosum (ACC) is not rare in obstetrics practices. However, information regarding the long-term neurological outcome remains uncertain. The aim of this study was to investigate clinical outcomes of prenatally diagnosed ACC and to analyze postnatal neurodevelopmental outcomes of ACC neonates born in our single center. METHODS: We retrospectively reviewed 56 cases of prenatally suspected ACC referred to our center. RESULTS: Fifty-six fetuses were diagnosed with ACC, and 12 of those were followed-up in our center until delivery. Of the remaining 44, 7 were delivered after being referred back to the original hospital, 23 were lost to follow-up, and 14 had unknown outcomes. Among all 56, 29 were considered to have isolated ACC and 27 were considered to have non-isolated ACC. Of the 10 live fetuses delivered in our center, four had isolated ACC, three had non-isolated ACC, and the rest had outcomes unrelated to ACC. Neurodevelopmental outcome was followed-up until approximately age 3 years. Of the four with isolated ACC, three (75%) had normal neurodevelopmental outcomes. CONCLUSION: Similar to other studies, the results of our single-center study included positive neurodevelopmental outcomes for those with isolated ACC. However, despite our endeavor to counsel patients with prenatally diagnosed ACC, the delivery rate in our center was quite low. Therefore, larger, multicenter, retrospective studies including long-term neurological development outcomes are crucial and urgently needed to provide better counseling.


Sujet(s)
Humains , Nouveau-né , Agénésie du corps calleux , Corps calleux , Assistance , Foetus , Corée , Perdus de vue , Obstétrique , Diagnostic prénatal , Études rétrospectives , Échographie
20.
Article de Anglais | WPRIM | ID: wpr-72414

RÉSUMÉ

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having PKS using array-based comparative genomic hybridization (array CGH) and FISH analyses performed on peripheral lymphocytes. Patients 1 and 2 presented with craniofacial dysmorphic features, hypotonia, and a developmental delay. Array CGH revealed two to three copies of 12p in patient 1 and three copies in patient 2. FISH analysis showed trisomy or tetrasomy 12p. Patient 3, who had clinical features comparable to those of patients 1 and 2, was diagnosed by using FISH analysis alone. Here, we report three patients with mosaic tetrasomy 12p. There have been only reported cases diagnosed by chromosome analysis and FISH analysis on skin fibroblast or amniotic fluid. To our knowledge, patient 1 was the first case diagnosed by using array CGH performed on peripheral lymphocytes in Korea.


Sujet(s)
Enfant d'âge préscolaire , Femelle , Humains , Nourrisson , Mâle , Maladies chromosomiques/diagnostic , Chromosomes humains de la paire 12 , Hybridation génomique comparative , Hybridation in situ , Tétrasomie
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