지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 264 - 269 (6page)
이용수
초록· 키워드
오류제보하기
Microdeletion of 9q22.3 is a rare chromosomal disorder characterized by bodyovergrowth, facial dysmorphic features and psychomotor delay. The presence ofgenomic microdeletion or microdu-plication can not be identified by the conventionalchromosomal analysis. Microarray comparative genomic hybridization(CGH)is a newly developed molecular cytogenetic technique that enables the identificationof minute copy number variation (CNV) in the human genome. Here, we report acase of microdeletion in the 9q22.31-q22.33 region, which includeda patchedhomolog 1 (PTCH1) gene, as detected by CGH and confirmed by fluorescencein situhybridization (FISH) analyses in a neonate with prenatal onset of macrosomia,dysmorphism, and muscle hypotonia. To the best of our knowledge, this is the firstcase report of 9q22.3 microdeletion detected by CGH in Korea.
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Cooper WN / 2005 / Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome / Eur J Hum Genet 13 : 1025 ~ 1032
Douglas J / 2003 / NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other growth phenotypes / Am J Hum Genet 72
Garavelli L / 2013 / Mulitple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1and FANC-C
Gorlin RJ / 1960 / Multiple nevoid basal cell epithelioma, jaw cysts and bifid rib. A syndrome / N Engl J Med 262 : 908 ~ 912
Kimonis VE / 2004 / Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome / Genet Med 6 : 495 ~ 502
Douglas J / 2003 / NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other growth phenotypes / Am J Hum Genet 72
Garavelli L / 2013 / Mulitple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1and FANC-C
Gorlin RJ / 1960 / Multiple nevoid basal cell epithelioma, jaw cysts and bifid rib. A syndrome / N Engl J Med 262 : 908 ~ 912
Kimonis VE / 2004 / Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome / Genet Med 6 : 495 ~ 502
이 논문의 저자 정보
최근 본 자료
댓글(0)
0