• Clinical and Experimental Pediatrics
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• v.45 no.5
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• pp.711-715
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• 2002

The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical and chromosomal study. He was a 15month-old infant who was admitted because of prolonged fever and vomiting. And he manifested a depressed midface, esotropia, anhydrosis, and developmental delay. Peripheral blood chromosome studies showed deleted chromosomal material at the distal part of the long arm of chromosome 18. He showed right hydronephroureterosis on IVP. So, he was diagnosed as 18q-syndrome with right hydronephroureterosis and anhydrosis. We report this syndrome with a review and related literature.

• Clinical and Experimental Pediatrics
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• v.52 no.10
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• pp.1171-1174
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• 2009

Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.1
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• pp.42-45
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• 2013

De Grouchy syndrome or Distal 18q- is a genetic condition caused by a deletion of genetic material within chromosome 18, and the deletion involves the distal section of 18q. It causes a wide range of medical and developmental concerns. Congenital orthopedic anomalies, cleft lip and palate are relatively common. People with distal 18q- are often small for their age. Most individuals with distal 18q- fall in the mild to moderate range of intellectual disability. Strabismus and nystagmus, changes in the optic nerve as well as colobomas are also fairly common. People with distal 18q- frequently have conductive and/or sensorineural hearing loss. At present, treatment for distal 18q- is only symptomatic. This article presents a case report: Caries treatment of a 4-year-old female patient with de Grouchy syndrome under general anesthesia. The special considerations of dental care, especially caries treatment for the patient with de Grouchy syndrome are discussed.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.120-123
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• 2013

This report describes three cases of 22q11.2 deletion syndrome (22q11.2DS) diagnosed by array comparative genomic hybridization with final adult height and bone phenotype. The cases involved a 57-year-old woman with hypocalcemic seizure, an 18-year-old man with short stature, and a 24-year-old woman incidentally diagnosed as 22q11.2DS. The first two patients revealed short stature and low bone mineral density, and their deletion sites included the $TBX_1$. The third patient had normal stature and normal bone mineral density, and the deletion site did not include the $TBX_1$. The deletion of specific genes including the $TBX_1$ could be an important factor of skeletal development including height and bone mineral density of 22q11.2DS.

• Korean Journal of Community Nutrition
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• v.18 no.1
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• pp.77-87
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• 2013

This study was conducted to investigate the nutrient intakes of subjects by quartile of percent energy intake from cooked rice, consumption of cooked rice mixed with multi-grains and to evaluate rice consumption in relation to the risk of metabolic syndrome. The subjects were 5,830 males and females aged between 20~64 years based on 2007-2008 KNHNES data. Levels of percent energy intake from cooked rice were classified into 4 groups (Q1, Q2, Q3, Q4 groups: 25% of each) using data of 24-hour recall method from KNHNES. Using medical examination and questionnaire, subjects were classified according to diagnostic criteria of metabolic syndrome. The subjects with higher age, being married, lower education, lower economic level were more likely to take higher percent energy intake from cooked rice. Quartile Q3 of percent energy intake from cooked rice tended to show higher Index of Nutritional Quality (INQ) for fiber, calcium, iron, potassium and vitamin A. INQ of protein, dietary fiber, calcium, thiamin, phosphorus, potassium, riboflavin, niacin and vitamin C by consumption of cooked rice mixed with multi-grains was higher than that by consumption of cooked white rice when adjusted for age. No association with a risk for metabolic syndrome was found for quartile of percent energy intake from cooked rice or cooked rice mixed with multi-grains compared to cooked white rice after adjusting for energy, gender, age, BMI, alcohol, smoking, income and physical activity. In conclusion, consumption of over 54% energy intake from cooked rice or only cooked white rice showed relatively low INQs, but was not associated with a higher risk for metabolic syndrome.

• Environmental Analysis Health and Toxicology
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• v.31
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• pp.18.1-18.8
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• 2016

Objectives This study aimed to evaluate the risk factors associated with depression and suicidal ideation in a rural population. Methods A survey was conducted with 543 farmers from Chungcheongnam-do Province using the Center for Epidemiologic Studies Depression Scale (CES-D) for depression, Lubben Social Network Scale (LSNS) for social support, Swedish Q16 for neurotoxicity symptoms and a survey tool for farmer's syndrome. Results After adjusting for socioeconomic factors using logistic regression analysis, poor self-rated health, low social support and neurotoxicity were positively associated with the risk of depression (odds ratio [OR], 15.96; 95% confidence interval [CI], 3.11 to 81.97; OR, 3.14; 95% CI, 1.26 to 7.82; and OR, 3.68; 95% CI, 1.08 to 12.57, respectively). The risk of suicidal ideation significantly increased with low social support, neurotoxicity and farmer's syndrome (OR, 2.28; 95% CI, 1.18 to 4.40; OR, 6.17; 95% CI, 2.85 to 13.34; and OR, 3.70; 95% CI, 1.51 to 9.07, respectively). Conclusions Given the overall results of this study, there is a need to establish programs which can improve the health and social relationships of farmers. Also, when farmers have neurological symptoms from pesticide exposure and characteristic symptoms of farmer's syndrome, a monitoring system for depression and suicide must be made available.

• The Journal of Internal Korean Medicine
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• v.41 no.3
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• pp.293-305
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• 2020

Purpose: This study aimed to develop a questionnaire for the diagnosis of chronic fatigue syndrome (CFS) designed based on the systematic exertion intolerance disorder (SEID) criteria, and to validate the reliability of the questionnaire. Methods: A literature search on questionnaires for CFS diagnosis was conducted to develop a SEID questionnaire (SEID-Q27), followed by a pilot survey to identify the reliability of the questionnaire. Adults (Daejeon university personnel) with a Chalder fatigue scale (CFQ) score ≥15 were invited for the survey. We commenced the survey in November 2019 with a two weeks of interval for the test and retest method. The reliability of the questionnaire was investigated in three angles: 1. Cronbach's α, 2. correlations (r) of the questions, numerical rating scale (NRS), and visual analog scale (VAS), and 3. kappa (k) analysis. Results: Among the total 275 adults registered, 55 (20%) participants with a CFQ score ≥15 were invited, and 31 (11%) [15 male, 16 female] completed the questionnaire. The total Cronbach's α was 0.944 for the test and 0.949 for the retest. The reliability (r) of questions by CFQ score (≥15, ≥18, ≥20) ranged from 0.533-0.928 (p <0.05), and the r score of the NRS and VAS were the highest in CFQ scores ≥20, at 0.933 (p<0.001). The agreement rate of the SEID-Q27 between the test and retest was 87% (kappa k=0.743). Conclusions: The SEID-Q27 seems to be reliable. Further studies are needed to measure the validity of the tool and the cutoff point.

• Clinical and Experimental Pediatrics
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• v.60 no.9
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• pp.282-289
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• 2017

Purpose: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. Methods: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. Results: Fifteen male and 12 female patients with a mean age of $29.3{\pm}17.6months$ were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with $M{\ddot{o}}bius$ syndrome. Conclusion: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.