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
- 2017.1
- 수록면
- 88 - 91 (4page)
이용수
초록· 키워드
오류제보하기
Dear Editor, The rec(8)dup(8q)inv(8)(p23.1q22.1) chromosome associated with San Luis Valley Syndrome (SLVS OMIM 179613) is usually diagnosed in Hispanic patients from the USA Southwest where a founder carrier Spaniard lived around 1800 [1, 2]. This rec(8) has an 8q duplication of 47.90 Mb and an 8p deletion of 11.65 Mb [3, 4]. Excluding two de novo rec(8)dup q chromosomes characterized only by G-bands and included in a recent compilation [5], cytogenomic analyses identified nine comparable de novo der(8)dup q/del p chromosomes with or without a simultaneous 8p gain. We describe a Mexican mestizo girl with a de novo SLVS-like der(8) but with a concomitant 8p22p23.1 duplication.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Buysse K / 2009 / Unusual 8p inverted duplication deletion with telomere capture from 8q / Eur J Med Genet 52 : 31 ~ 36
Cooke SL / 2008 / Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement / Am J Med Genet Part A 146A : 1166 ~ 1172
Garcia-Santiago FA / 2015 / Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization / Am J Med Genet Part A 167A : 1018 ~ 1025
Graw SL / 2000 / Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome / Am J Hum Genet 66 : 1138 ~ 1144
Kan AS / 2014 / Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong / PLoS One 9 : e87988 ~
Cooke SL / 2008 / Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement / Am J Med Genet Part A 146A : 1166 ~ 1172
Garcia-Santiago FA / 2015 / Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization / Am J Med Genet Part A 167A : 1018 ~ 1025
Graw SL / 2000 / Cloning, sequencing, and analysis of inv8 chromosome breakpoints associated with recombinant 8 syndrome / Am J Hum Genet 66 : 1138 ~ 1144
Kan AS / 2014 / Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong / PLoS One 9 : e87988 ~
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
지역사회 거주 조현병 범주 장애 환자의 정신증 미치료 기간 관련 요인
대한조현병학회지
2020 .01
-
A Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3
Annals of Rehabilitation Medicine
2017 .01
-
An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea
Journal of genetic medicine
2015 .01
-
De Novo Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review
Annals of Laboratory Medicine
2020 .01
-
진성혈소판증가증 환자에 동반된 드문 der(Y)t(Y;1)(q12;q12) 1예
Laboratory Medicine Online
2016 .01
-
Isolated 9p Duplication With der(Y)t(Y;9)(q12;p13.2) in a Male Patient With Cardiac Defect and Mental Retardation Confirmed by Chromosomal Microarray
Annals of Laboratory Medicine
2016 .01
-
Anesthetic management of a patient with chromosome 6p duplication: a case report
Journal of dental anesthesia and pain medicine
2017 .01
-
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
Annals of Laboratory Medicine
2018 .01
-
Effects of Group Cognitive-Behavioral Therapy in Young Patients in the Early Stage of Psychosis
PSYCHIATRY INVESTIGATION
2017 .01
-
Chromosome 11q13 deletion syndrome
Clinical and Experimental Pediatrics
2016 .01
-
A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report
Yonsei Medical Journal
2017 .01
-
An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
Annals of Laboratory Medicine
2016 .01
-
Terminal Deletion of the Chromosome 4q with Hemivertebra: Case Report
Perinatology
2020 .01
-
The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
Annals of Laboratory Medicine
2020 .01
-
Effects of a Multikinase Inhibitor Motesanib (AMG 706) Alone and Combined with the Selective DuP-697 COX-2 Inhibitor on Colorectal Cancer Cells
Asian Pacific journal of cancer prevention : APJCP
2016 .01
-
Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy
Journal of Clinical Neurology
2020 .01
-
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Clinical and Experimental Pediatrics
2015 .01
-
A Novel Transthyretin Gene Mutation in Hereditary Transthyretin Amyloidosis: A Case Series of Met13dup Patients
Korean Circulation Journal
2023 .05
-
A boy with 46,X,+mar presenting gynecomastia and short stature
Annals of Pediatirc Endocrinology & Metabolism
2017 .01
-
Calculation of standard liver volume in Korean adults with analysis of confounding variables
Annals of Hepato-Biliary-Pancreatic Surgery
2015 .11
이 논문의 저자 정보
최근 본 자료
댓글(0)
0