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
- 2016.1
- 수록면
- 938 - 942 (5page)
이용수
초록· 키워드
오류제보하기
Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and micrognathia, all of which result in a very distinguishable facial structure. A child with trisomy 1 also suffers from mental retardation and/or developmental delays. In this case report, the child was diagnosed with de novo trisomy 1 without receiving any treatment until visiting our hospital. The child suffered from foot and ankle deformities, leading her unable to stand independently. Here we report the surgical treatment and rehabilitation treatment that enabled the child to walk independently.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Kulikowski LD / 2008 / Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes / Am J Med Genet A 146A:2663~2667
Lungarotti MS / 1980 / De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics / J Med Genet 17:398~402
Gfatter R / 1998 / The common features of patients with partial trisomy of the long arm of chromosome 1 / Clin Genet 54:161~163
George DA / 2007 / The influence of foot orthoses on the function of a child with developmental delay / Pediatr Phys Ther 19:332~336
van Haelst MM / 2002 / Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome / J Med Genet 39:582~585
Lungarotti MS / 1980 / De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics / J Med Genet 17:398~402
Gfatter R / 1998 / The common features of patients with partial trisomy of the long arm of chromosome 1 / Clin Genet 54:161~163
George DA / 2007 / The influence of foot orthoses on the function of a child with developmental delay / Pediatr Phys Ther 19:332~336
van Haelst MM / 2002 / Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome / J Med Genet 39:582~585
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