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
- 2020.1
- 수록면
- 277 - 280 (4page)
이용수
초록· 키워드
오류제보하기
Dear Editor, Trisomy 20p is a rare genetic disorder manifesting as intellectual disability, speech delay, specific facial features, and delayed motor milestones. Severity of the symptom depends on chromosome 20p duplication size; larger chromosomal duplications usually result in more serious symptoms [1]. Most previously reported cases involved partial trisomy 20p derived from a parental reciprocal translocation, chromosome inversion, or a small supernumerary marker chromosome (sSMC) [1-5]. However, only a few cases of pure trisomy 20p (involving whole short arm of chromosome 20) have been reported [1, 5-9].
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Oppenheimer S / 2000 / Partial trisomy 20p : familial occurrence / Am J Med Genet 95:316~319
Centerwall W / 1977 / Familial trisomy 20p five cases and two carriers in three generations a review / Ann Genet 20:77~83
Grammatico P / 1992 / 20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome / Clin Genet 41:285~289
강정은 / 2012 / A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion / Annals of Laboratory Medicine 32(1):91~94
Liehr T / Small supernumerary marker chromosomes
Centerwall W / 1977 / Familial trisomy 20p five cases and two carriers in three generations a review / Ann Genet 20:77~83
Grammatico P / 1992 / 20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome / Clin Genet 41:285~289
강정은 / 2012 / A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion / Annals of Laboratory Medicine 32(1):91~94
Liehr T / Small supernumerary marker chromosomes
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