• Clinical and Experimental Pediatrics
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• 제58권8호
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• pp.313-316
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• 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with frontal bossing, flat nasal bridge, microretrognathia with normal palate and uvula, thin upper lip in an inverted V-shape, a midline sacral dimple, severe calcanovalgus at admission, and severe global developmental delay at 18 months of age. Fluorescence in situ hybridization findings confirmed that the deleted regions contained at least 15q22. The chromosome analysis revealed a karyotype of 46,XY,del(15) (q22q23). Parental chromosome analysis was performed and results were normal. After reviewing the limited literature on interstitial 15q deletions, we believe that the presented case is the first description of mapping of an interstitial deletion involving the chromosome 15q22q23 segment in Korea. This report adds to the knowledge of the clinical phenotype associated with the 15q22q23 deletion.

• Journal of Genetic Medicine
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• 제8권1호
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• pp.58-61
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• 2011

저자들은 출생 후 소두증 및 양안격리증과 넓은 콧마루, 얇은 입술 등의 특징정인 얼굴 모습, 손가락마디 융합증과 근위부에 위치한 엄지 손가락 등의 손의 기형이 있으면서 양측 청력 장애와 진행하는 관절의 구축을 보였던 남아의 염색체 검사에서 17번 염색체 장완의 q22-q24 부분의 염색체내 결손(interstitial deletion)을 확인한 1례를 경험하였으며 이는 국내 첫 보고이다.

• Clinical and Experimental Pediatrics
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• 제45권2호
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• pp.273-277
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• 2002

저자들은 짧은 사지를 가지고 태어난 생후 2일된 여자 신생아에서 뇌량의 부분 발육부전과 특징적인 임상소견을 보이면서 염색체 검사상 4번 염색체 장완 간질부결손으로 확진된 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.19-24
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• 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

• Annals of Rehabilitation Medicine
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• 제42권6호
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• pp.884-887
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• 2018

We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation. Non-contrast-enhanced three-dimensional computed tomography of the cervical spine revealed several malformations including a bone cleft in the right pars interarticularis, a bone defect in both C5 lamina and the transverse foramen at C2-C3, agenesis of the right articular process of C5, bony fusion of C4-C5, and subluxation of the craniocervical joints. Several deformities of the cervical spine seen in this patient have not been associated with the 5q deletion. A review of 5q-related mutations suggests that abnormalities associated with MSX2 gene might cause cervical spine abnormalities.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.38-42
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• 2018

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

• Genomics & Informatics
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• 제1권2호
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• pp.101-107
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• 2003

Loss of heterozygosity (LOH) has been used to detect deleted regions of a specific chromosome in cancer cells. LOH on chromosome 16q has been reported to occur frequently in progressed hepatocellular carcinoma (HCC). Liver tissues from 37 Korean HCC patients were analyzed for LOH by using 25 polymorphic microsatellite markers distributed along 16q. Out of the 37 HCC patients studied, 21 patients (56.8%) showed LOH in various regions of 16q with at least one polymorphic marker. Puring the analysis of these 21 LOH cases, 6 patients showed interstitial LOHs in which the boundary of the LOH region was defined. With two rounds of LOH analysis, five commonly occurring interstitial LOH regions were identified; 16q21-22.1, 16q22.2 - 22.3, 16q22.3, 16q23.2 and 16q23.3 - 24.1. Among the five LOH regions the 16q23.3 - 24.1 region has been reported to be related with chromosome instability. A complete physical map, which covers the 3.2 Mb region of 16q23.3 - 24.1 (D16S402 and D16S486), was constructed to identify novel candidate tumor suppressor genes. We provide the minimally tiling path map consisting of 28 BAC clones. There was one gap between NT_10422.11 and NT_019609.9 of the human genome sequence contig (NCBI sequence build 33, April 29, 2003). This gap can be filled by sequencing the R-1425M20 clone which bridges these sequence contigs.

• 대한수의학회지
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• 제32권1호
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• pp.99-109
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• 1992

Pathological studies by light and electron microscope were carried out on the twenty piglets naturally affected by encephalomyocarditis virus infection. Gross findings included pale or yellow, small necrotic foci on myocardium, together with pulmonary edema and liver congestion in some cases. On light microscopy, nonsuppurative interstitial endocarcitis, epicarditis and myocarditis, myocardial infarction, and dystrophic calcification or fibtosis were observed in heart. Perivascular cuffings, gliosis and nonsuppurative meningitis were appeared in brain. Focal or diffuse necrosis with mononuclear cell infiltration in lacrimal gland and multifocal necrosis in liver were observed in some cases. Congestion and edema of lung, hyperemia, hemorrhage and deletion of lymphocytes of lymph nodes and spleen were recognized. On electron microscopy, severe swelling and vacuolization of mitochondria and sarcoplasmic reticulum, large intracellular vacuolation and edema, separation and fragmentation of myofibrils were observed. Virus particles were seen in the sarcoplasm of degenerated cardiac muscle cell.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.25-28
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• 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

• Clinical and Experimental Pediatrics
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• 제52권6호
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• pp.701-704
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• 2009

Smith-Magenis 증후군(SMS)은 17번 염색체에서 유전물질을 향유한 곳이 일부 떨어져 나가면서 생기는 질환으로, 신체, 발달 및 행동상의 특징적 이상이 나타나는 질환이다. 출생빈도는 출생아 25,000명 중에 한 명 꼴로 출생하는 것으로 알려져 있으나 최근 분자유전학적 진단 기술의 발달로 이 질환의 환자수가 점차 증가되고 있다. 다양한 임상증상과 더불어 수면장애, 경련에 대한 치료뿐만 아니라 적절한 언어, 행동학적 치료가 필요하다. 저자들은 SMS 환아 2예를 진단하고 치료하고 있는 경험이 있어 이를 보고하는 바이다.