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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
- 194 - 196 (3page)
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초록· 키워드
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Dear Editor, Abnormalities involving the proximal segment of the long arm of chromosome 14 (14q) are rare. Clinical phenotypes of duplications on 14q vary, with autistic disorder, mental retardation, delayed development, and dysmorphic features being the common phenotypes [1-3]. Several studies have attempted to elucidate the correlation between these clinical phenotypes and candidate genes. However, because of insufficient reports and genetic studies, establishing a correlation between genotype and the corresponding phenotype has been difficult. In this study, we report a newborn with an 18.3 Mb large duplication in the 14q11.2q21.1 that was identified by a chromosomal microarray.
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참고문헌 (7)
참고문헌 신청
Brunetti-Pierri N / 2011 / Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment / Eur J Hum Genet 19:102~107
Monfort S / 2007 / Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci / Am J Med Genet A 143:382~384
Yeung A / 2009 / 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment / Eur J Med Genet 52:440~442
Granados-Riveron JT / 2010 / Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects / Hum Mol Genet 19:4007~4016
Bruneau BG / 2008 / The developmental genetics of congenital heart disease / Nature 451:943~948
Monfort S / 2007 / Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci / Am J Med Genet A 143:382~384
Yeung A / 2009 / 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment / Eur J Med Genet 52:440~442
Granados-Riveron JT / 2010 / Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects / Hum Mol Genet 19:4007~4016
Bruneau BG / 2008 / The developmental genetics of congenital heart disease / Nature 451:943~948
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