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
- 2013.1
- 수록면
- 291 - 294 (4page)
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초록· 키워드
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Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Delayed development is a common problem referred to pediatric rehabilitation clinics. A 9-month-old boy with delayed development was referred to our clinic for assessment and treatment. On chromosomal analysis, he was diagnosed as idic(15) syndrome with 47,XY,+idic(15)(q12) on karyotyping. Herein we describe his clinical manifestations and provide a brief review of the related literature.
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등록된 정보가 없습니다.
참고문헌 (8)
참고문헌 신청
Battaglia A. / 2005 / The inv dup(15)or idic(15)syndrome : a clinically recognisable neurogenetic disorder / Brain Dev 27 : 365 ~ 369
Battaglia A. / 2008 / The inv dup(15)or idic(15)syndrome(tetrasomy 15q) / Orphanet J Rare Dis 3 : 30 ~
Buoni S. / 2000 / The syndrome of inv dup(15) : clinical, electroencephalographic, and imaging findings / J Child Neurol 15 : 380 ~ 385
Hogart A. / 2010 / The comorbidity of autism with the genomic disorders of chromosome 15q11. 2-q13 / Neurobiol Dis 38 : 181 ~ 191
Kwasnicka-Crawford DA. / 2007 / Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11?13 region / J Autism Dev Disord 37 : 694 ~ 70
Battaglia A. / 2008 / The inv dup(15)or idic(15)syndrome(tetrasomy 15q) / Orphanet J Rare Dis 3 : 30 ~
Buoni S. / 2000 / The syndrome of inv dup(15) : clinical, electroencephalographic, and imaging findings / J Child Neurol 15 : 380 ~ 385
Hogart A. / 2010 / The comorbidity of autism with the genomic disorders of chromosome 15q11. 2-q13 / Neurobiol Dis 38 : 181 ~ 191
Kwasnicka-Crawford DA. / 2007 / Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11?13 region / J Autism Dev Disord 37 : 694 ~ 70
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