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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
- 2017.1
- 수록면
- 881 - 886 (6page)
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초록· 키워드
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Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.
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참고문헌 (10)
참고문헌 신청
/ / Online Mendelian Inheritance in Man (OMIM)
Barbaro M / 2009 / Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA / Eur J Hum Genet 17 : 1439 ~ 1447
Boccone L / 2004 / Duplication of the terminal band of the long arm of chromosome 7: a new case / Genet Couns 15 : 87 ~ 90
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources). / / GRCh37, mapping the clinical genome
Del Rey G / 2015 / Association of distal deletion of the short arm of chromosome 9 with 46,XY disorder of sex development and gonadoblastoma / Biol Syst Open Access 4 : 129 ~
Barbaro M / 2009 / Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA / Eur J Hum Genet 17 : 1439 ~ 1447
Boccone L / 2004 / Duplication of the terminal band of the long arm of chromosome 7: a new case / Genet Couns 15 : 87 ~ 90
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources). / / GRCh37, mapping the clinical genome
Del Rey G / 2015 / Association of distal deletion of the short arm of chromosome 9 with 46,XY disorder of sex development and gonadoblastoma / Biol Syst Open Access 4 : 129 ~
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