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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2009.1
- 수록면
- 76 - 80 (5page)
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초록· 키워드
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A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.1). Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1-->qter. Because 8p21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.
목차
등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Bhatia SN / 1999 / Prenatal detection and mapping of a distal 8p deletion associated with congenital heart disease / Prenat Diagn 19 : 863 ~ 867
Bowen P / 1983 / Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22) / Am J Med Genet 14 : 635 ~ 646
Claeys I / 1997 / A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8 / Am J Med Genet 74 : 515 ~ 520
Cooke SL / 2008 / Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement / Am J Med Genet A 146 : 1166 ~ 1172
Devriendt K / 1995 / Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo- cardio-facial syndrome / Ann Genet 38 : 228 ~ 230
Bowen P / 1983 / Duplication 8q syndrome due to familial chromosome ins(10;8)(q21;q212q22) / Am J Med Genet 14 : 635 ~ 646
Claeys I / 1997 / A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8 / Am J Med Genet 74 : 515 ~ 520
Cooke SL / 2008 / Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement / Am J Med Genet A 146 : 1166 ~ 1172
Devriendt K / 1995 / Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo- cardio-facial syndrome / Ann Genet 38 : 228 ~ 230
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