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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 84 - 88 (5page)
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초록· 키워드
오류제보하기
Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital hip dislocation, porencephaly, and brain atrophy. Array comparative genomic hybridization analysis showed arr 6q13q16.2(73,378,824-99,824,130), demonstrating higher resolution than the conventional cytogenetic findings, del(6)(q12q15). The clinical data were analyzed and compared with those of similar patients previously reported in the literature. (Korean J Lab Med 2010;30:84-8)
목차
등록된 정보가 없습니다.
참고문헌 (24)
참고문헌 신청
Chae KY / 1999 / Deletion of the long arm of chromosome 6 associated with arachnoid cyst and brain atropy / J Korean Child Neurol Soc 7 : 250 ~ 256
Duran-Gonzalez J / 2007 / A de novo interstitial 6q deletion in a boy with a split hand malformation / J Appl Genet 48 : 405 ~ 407
Gershoni-Baruch R / 1996 / Interstitial deletion (6)q13q15 / Am J Med Genet 62 : 345 ~ 347
Hansson K / 2007 / Interstitial deletion of 6q without phenotypic effect / Am J Med Genet A 143A : 1354 ~ 1357
Hopkin RJ / 1997 / New insights into the phenotypes of 6q deletions / Am J Med Genet 70 : 377 ~ 386
Duran-Gonzalez J / 2007 / A de novo interstitial 6q deletion in a boy with a split hand malformation / J Appl Genet 48 : 405 ~ 407
Gershoni-Baruch R / 1996 / Interstitial deletion (6)q13q15 / Am J Med Genet 62 : 345 ~ 347
Hansson K / 2007 / Interstitial deletion of 6q without phenotypic effect / Am J Med Genet A 143A : 1354 ~ 1357
Hopkin RJ / 1997 / New insights into the phenotypes of 6q deletions / Am J Med Genet 70 : 377 ~ 386
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