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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
- 2016.1
- 수록면
- 191 - 193 (3page)
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Dear Editor, 9p duplication syndrome is characterized by craniofacial dysmorphism, digital abnormalities, short stature, short neck, developmental delay, and mental retardation [1]. It can also accompany rare phenotypes including cardiac defect [2, 3], psychotic behavior [4], autism spectrum disorder (ASD) [5], and hearing loss [6]. Phenotypes of 9p duplication correlate with the size and position of the involved region [6]. Most 9p duplications originate from parental balanced translocation, usually between chromosome 9 and other autosomes [1, 4]. Therefore, accompanying partial monosomy of chromosome 9 or abnormalities of other chromosomes may complicate the understanding on the genotype-phenotype correlation of 9p duplication [1]. Reports on isolated 9p duplication, excluding cases with partial monosomy of chromosome 9 or other chromosomes, are relatively uncommon [1]. Here, we report an isolated 9p duplication case confirmed by chromosomal microarray (CMA) analysis.
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참고문헌 (10)
참고문헌 신청
Guilherme RS / 2014 / Duplication 9p and their implication to phenotype / BMC Med Genet 15:142
Teraoka M / 2001 / Maternal origin of a unique extra chromosome, der(9)(pter→q13:: q13→q12:) in a girl with typical trisomy 9p syndrome / Am J Med Genet 102:25~28
Haddad BR / 1996 / Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24) / J Med Genet 33:1045~1047
Martíinez-Jacobo L / 2015 / Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior / Gene 560:124~127
Abu-Amero KK / 2010 / A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation / BMC Med Genet 11:135
Teraoka M / 2001 / Maternal origin of a unique extra chromosome, der(9)(pter→q13:: q13→q12:) in a girl with typical trisomy 9p syndrome / Am J Med Genet 102:25~28
Haddad BR / 1996 / Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24) / J Med Genet 33:1045~1047
Martíinez-Jacobo L / 2015 / Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior / Gene 560:124~127
Abu-Amero KK / 2010 / A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation / BMC Med Genet 11:135
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