• Journal of Genetic Medicine
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• v.17 no.2
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• pp.102-107
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• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.291-294
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• 2003

Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.

• 한국정보디스플레이학회:학술대회논문집
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• 2008.10a
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• pp.355-358
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• 2008

We report a method for improving characteristics of AC PDP in this study. This improvement is obtained by spreading MgO nanoparticles on transparent dielectric layer. These nanoparticles are covered with MgO protective layer by electron beam evaporation. MgO nanoparticle has difference in cathodoluminescence stronger than MgO layer by electron beam evaporation. This method worked for reducing statistical delay especially. Efficacy, discharge voltage and luminance were also improved But these improvements has limited lifetime because continuous ion bombardments changed characteristic of MgO surface.

• Korean Journal of Child Studies
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• v.28 no.4
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• pp.1-17
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• 2007

Participants in this study on links between toddlers' compliance and variables were 97 toddlers and their mothers. Instruments were the Toddler Behavior Assessment Questionnaire (Goldsmith, 1988) and the Child Rearing Practice Report-Q Sort (Block, 1981). Toddlers' compliance was observed on clean-up and behavior-delay tasks. Data analysis was by logistic and regression analyses. Results on the clean-up task indicated lower compliance by difficult children and higher compliance by girls. On the behavior-delay task, boys with less difficult temperament showed higher compliance by mother's higher punishment attitudes, whereas highly difficult boys were more compliant by mother's lower punishment attitudes. Girls' compliance was higher than boys in the low inhibition group whereas boys' compliance was higher than girls in the high inhibition group.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.52-56
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• 2013

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.

• Journal of Korean Foot and Ankle Society
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• v.6 no.2
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• pp.211-216
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• 2002

Delay in diagnosis is possible in bone tumor located in the foot because it is rare. We experienced one case of osteoid osteoma located at the navicular bone of the foot which was slowly progressive and complicated with calcaneocuboidal joint, talonavicular joint arthritis. Osteoid osteoma of the navicular bone in the foot is rare. It bring about unwanted delay in diagnosis, complication. It is necessary to diagnose and treat in early situation to prevent complication and unnecessary operation.

• The Journal of the Korea Contents Association
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• v.11 no.11
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• pp.286-295
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• 2011

This case study was to examine the effect of the sensory integration therapy on the Goldenhar syndrome child with tactile defensiveness, developmental delay and occupational performance difficulties. The child was 7.10 year old boy. For intervention, four evaluations were used and the results are as follows. First, in Canadian Occupational Performance Measure showed occupational performance goal as reading and writing in upright position. Second, in Short sensory profile and sensory history, significant differences between sensory sensitivity and tactile processing. Third, in Developmental Profile-3 showed delay. Fourth, in Bruininks-Oseretsky Test of Motor Proficiency-2 showed below average. After intervention, the results of which showed a positive changes. Therefore, this case study is found that the sensory integration therapy is effective in the Goldenhar syndrome child with tactile defensiveness and developmental delay.

• Clinical and Experimental Pediatrics
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• v.52 no.9
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• pp.957-963
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• 2009

Neonatal seizures are the most common and distinctive clinical sign of prenatal and/or neonatal brain disorders. Newborn infants with seizures are at risk of mortality and survivors at risk for neurologic impairment, developmental delay, and subsequent epilepsy. Fifteen reports on neonatal seizures in Korea from 1983 to 2009 were analyzed. A total of 731 neonatal seizure cases were reported. Day of seizure onset, etiology, type of seizures, electroencephalogram findings, and outcomes were analyzed. It is necessary to establish a basic report for a future nationwide study of neonatal seizures.

• Journal of Chest Surgery
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• v.25 no.10
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• pp.1098-1101
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• 1992

Esophageal achalasia is a disease with characteristic disorder of esophageal motility. Also, this disorder is known to be predisposing factor of malignancy. Although the incidence of esophageal cancer in patients with achalasia varies widely, the incidence hed been reported from l% to 29% in many articles. It is known that delay in management of achalasia is believed to increase the risk of malignant degeneration. We experience a case with esophageal cancer complicating longstanding esophageal achalasia.

• The Bulletin of The Korean Astronomical Society
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• v.32 no.1
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• pp.66.1-66.1
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• 2007