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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
- 2018.1
- 수록면
- 77 - 79 (3page)
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Dear Editor, Few cases involving deletions and duplications of the short arm of chromosome 20 have been reported; these patients present various phenotypes, including developmental delays and dysmorphic features [1-10]. In the majority of cases, 20p deletions and duplications are accompanied by defects in other chromosomes [1-3]. Here, we report a patient with a complex partial deletion and duplication involving 20p only, identified by chromosomal microarray (CMA)
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참고문헌 (10)
참고문헌 신청
Freitas EL / 2011 / Maternally inherited partial monosomy 9p (pter --> p24.1) and partial trisomy 20p (pter --> p12.1) characterized by microarray comparative genomic hybridization / Am J Med Genet Part A 155A:2754~2761
Meloni Vde F / 2012 / Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype / Gene 496:59~62
Oegema R / 2012 / Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p / Eur J Med Genet 55:265~268
Leclercq S / 2009 / Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model / Am J Med Genet Part A 149A:437~445
Trachoo O / 2013 / Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features / Eur Med Genet 56:319~324
Meloni Vde F / 2012 / Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype / Gene 496:59~62
Oegema R / 2012 / Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p / Eur J Med Genet 55:265~268
Leclercq S / 2009 / Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model / Am J Med Genet Part A 149A:437~445
Trachoo O / 2013 / Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features / Eur Med Genet 56:319~324
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