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

• 대한임상검사과학회지
• /
• 제47권4호
• /
• pp.209-215
• /
• 2015

대장암은 우리나라에서 많이 발병하는 4대 암의 하나로써, 경제적인 발전을 통한 생활양식의 서구화 등으로 인해 매년 증가 추세에 있다. 따라서 대장암의 다양한 진단방법이 요구되고 있으며, 새로운 진단방법으로 가능한 Comparative Genomic Hybridization 실험을 하였다. 실험결과 Deletion은 5q (10%), 10q (17%), 17p (40%), 18p (23%), 18q (47%), 22q (23%)이며, 가장 많은 빈도로 관찰된 것은 18q, 17p, 22q로서 18q에서 47% (14/30)가, 17p에서 40% (12/30)가, 22q에서 23% (7/30)가 관찰되었다. Amplification은 염색체 6pq (10%), 7p (17%), 7q (33%), 8q (13%), 9pq (10%), 12q (17%), 13q (37%), 20p (23%), 20q (57%)부분에서 증폭이 보여졌다. 가장 많은 빈도로 관찰된 것은 20q, 13q, 7q로서 20q에서 57% (17/30)가, 13q에서 37% (11/30)가, 7q에서 33% (10/30)가 관찰되었다. 대장암의 위치에 따른 유전자 변이 양상은 우측 대장암이 평균 3.1개(증폭 1.7개, 결실 1.4개)인데 반해, 직장암은 평균 6.3개(증폭 3.7개, 결실 2.6개)로서 높았다(p<0.001). 림프절 전이에 따른 유전자 변이 양상은 전이가 없는 군에서는 평균 3.5개(증폭 2.2개, 결실 1.3개)인데 반해, 림프절 전이가 있는 군은 평균 6.3개(증폭 3.5개, 결실 2.8개)로서 높았다(p<0.003). 병기별에 따른 유전자 변이 양상은 I~II병기에서는 평균 3.5개(증폭 2.1개, 결실 1.4개)인데 반해, III~IV병기에서는 평균 6.0개(증폭 3.4개, 결실 2.6개)로서 높았다(p<0.006). 조직학적 분류에 따른 비교와 혈청 CEA 증가군에 대한 비교는 큰 차이가 없었다.

• Clinical and Experimental Pediatrics
• /
• 제57권6호
• /
• pp.292-296
• /
• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Journal of Genetic Medicine
• /
• 제17권2호
• /
• pp.102-107
• /
• 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.

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

• Clinical and Experimental Pediatrics
• /
• 제57권7호
• /
• pp.333-336
• /
• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

• Pediatric Gastroenterology, Hepatology & Nutrition
• /
• 제4권1호
• /
• pp.108-112
• /
• 2001

Nonsyndromic intrahepatic bile duct paucity is known to be associated with several kinds of etiology such as infection, chromosomal anomaly, metabolic disease and idiopathic. We report a rare case of intrahepatic bile duct paucity with congenital bilateral vocal cord paralysis and 13q deletion.

• Journal of Korean Neurosurgical Society
• /
• 제46권4호
• /
• pp.385-388
• /
• 2009

Objective : We analyzed the methylation status of the O6-methylguanine-DNA methyltransferase (MGMT) gene promoter in World Health Organization (WHO) grade III gliomas in association with other molecular markers to evaluate their prevalence. Methods : The samples of a total of 36 newly WHO grade III glioma patients including 19 anaplastic oligodendrogliomas (AO), 7 anaplastic oligoastrocytomas (AOA), and 10 anaplastic astrocytomas (AA) were analyzed. The methylation status of the MGMT gene promoter was confirmed by methylation-specific polymerase chain reaction. The 1p/19q chromosomal deletion status and EGFR amplification were assessed by Fluorescence In-Situ Hybridization. MGMT, EGFR, EGFRvlll, and p53 expression were analyzed by immunohistochemical staining. Results : The MGMT gene promoter was methylated in 32 (88.9%) and unmethylated in 4 (11.2%) Among them, all of the AO and AOA had methylated MGMT gene promoter without exception. Significant associations between MGMT gene promoter hypermethylation and 1p/19q deletion was observed (p=0.003). Other molecular markers failed to show significant associations between MGMT gene promoter statuses. Conclusion : There was extensive epigenetic silencing of MGMT gene in high grade gliomas with oligodendroglial component. Together with frequent 1p/19q co-deletion in oligodendroglial tumors, this may add plausible explanations supporting the relative favorable prognosis in oligodendroglial tumors compared with pure astrocytic tumors.

• Archives of Plastic Surgery
• /
• 제41권4호
• /
• pp.344-349
• /
• 2014

Background An abnormally obtuse cranial base angle, also known as platybasia, is a common finding in patients with 22q11.2 deletion syndrome (22q11DS). Platybasia increases the depth of the velopharynx and is therefore postulated to contribute to velopharyngeal dysfunction. Our objective was to determine the clinical significance of platybasia in 22q11DS by exploring the relationship between cranial base angles and speech resonance. Methods In this retrospective chart review at a tertiary hospital, 24 children (age, 4.0-13.1 years) with 22q11.2DS underwent speech assessments and lateral cephalograms, which allowed for the measurement of the cranial base angles. Results One patient (4%) had hyponasal resonance, 8 (33%) had normal resonance, 10 (42%) had hypernasal resonance on vowels only, and 5 (21%) had hypernasal resonance on both vowels and consonants. The mean cranial base angle was $136.5^{\circ}$ (standard deviation, $5.3^{\circ}$; range, $122.3-144.8^{\circ}$). The Kruskal-Wallis test showed no significant relationship between the resonance ratings and cranial base angles (P=0.242). Cranial base angles and speech ratings were not correlated (Spearman correlation=0.321, P=0.126). The group with hypernasal resonance had a significantly more obtuse mean cranial base angle ($138^{\circ}$ vs. $134^{\circ}$, P=0.049) but did not have a greater prevalence of platybasia (73% vs. 56%, P=0.412). Conclusions In this retrospective chart review of patients with 22q11DS, cranial base angles were not correlated with speech resonance. The clinical significance of platybasia remains unknown.

• Journal of Interdisciplinary Genomics
• /
• 제5권1호
• /
• pp.1-4
• /
• 2023

Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the Euchromatin Histone Methyl Transferase 1 (EHMT1) gene. The prevalence is estimated 1:25,000 to 1:35,000. Intellectual disability, distinctive facial features, hypotonia in childhood can be accompanied. The spectrum of Kleefstra syndrome includes behavioral/psychiatric problems, hearing and visual impairments, seizures, congenital heart defects, genitourinary defects, and obesity. Therefore, it is necessary to understand the pathophysiology and various manifestation of Kleefstra syndrome and discussing with a multidisciplinary team will help diagnose and treat Kleefstra syndrome patients.