지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 36 - 39 (4page)
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초록· 키워드
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Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.
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등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Frints SG / 2003 / CALL interrupted in a patient with non-specific mental retardation:gene dosage-dependent alteration of murine brain development and behavior / Hum Mol Genet 12:1463~1474
Dijkhuizen T / 2006 / FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions / Am J Med Genet A 140:2482~2487
Drumheller T / 1996 / Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome / J Med Genet 33:842~847
Fernandez TV / 2008 / Molecular characterization of a patient with 3p deletion syndrome and a review of the literature / Am J Med Genet A 146A:2746~2752
Dong Hoon Han / 2012 / A case of partial trisomy 3p syndrome with rare clinical manifestations / Korean Journal of Pediatrics 55(3):107~110
Dijkhuizen T / 2006 / FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions / Am J Med Genet A 140:2482~2487
Drumheller T / 1996 / Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome / J Med Genet 33:842~847
Fernandez TV / 2008 / Molecular characterization of a patient with 3p deletion syndrome and a review of the literature / Am J Med Genet A 146A:2746~2752
Dong Hoon Han / 2012 / A case of partial trisomy 3p syndrome with rare clinical manifestations / Korean Journal of Pediatrics 55(3):107~110
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