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
Chromosome 9p syndrome is a rare chromosomal abnormality caused by a partial deletion in chromosome 9. It was first described in 1973 by Alfi et al., and has since been shown to have diverse clinical phenotypes. Here, we reported a case of a male infant with joint contracture of the extremities, dysmorphic face, inguinal hernia, and testicular cystic masses. Chromosomal analysis revealed a terminal deletion at the short arm of chromosome 9. The major clinical features of the 9p deletion syndrome are trigonocephaly, small palpebral fissures, a flat nasal bridge, and mental retardation.
To the best of our knowledge, this is the first reported case of a patient with 9p24 deletion presenting with arthrogryposis multiplex congenita.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Alfi O / 1973 / Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome / Ann Genet 16 : 17 ~ 22
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
Bennett CP / 1993 / Deletion 9p and sex reversal / J Med Genet 30 : 518 ~ 520
Christ LA / 1999 / Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome / Am J Hum Genet 65 : 1387 ~ 1395
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 : 1 ~
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
Bennett CP / 1993 / Deletion 9p and sex reversal / J Med Genet 30 : 518 ~ 520
Christ LA / 1999 / Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome / Am J Hum Genet 65 : 1387 ~ 1395
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 : 1 ~
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Terminal Deletion of the Chromosome 4q with Hemivertebra: Case Report
Perinatology
2020 .01
-
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
Annals of Laboratory Medicine
2018 .01
-
Prenatal diagnosis of 5p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
Prenatal diagnosis of 4p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
Inguinal hernia
대한외과학회 학술대회 초록집
2016 .11
-
A Case of Chromosome 7q34 Deletion in an Infant with Hypothalamic Hamartoma and Biliary Atresia
Perinatology
2016 .01
-
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism
Journal Of Movement Disorders
2024 .04
-
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
-
Ultrasound imaging for inguinal hernia: a pictorial review
ULTRASONOGRAPHY
2022 .07
-
Chromosome 11q13 deletion syndrome
Clinical and Experimental Pediatrics
2016 .01
-
Effects of e2f3 gene deletion in mice
한국실험동물학회 학술발표대회 논문집
2020 .02
-
Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy
Journal of Clinical Neurology
2020 .01
-
Inguinal hernia surgery in Korea: nationwide data from 2007-2015
Annals of Surgical Treatment and Research
2019 .07
-
A case of de novo 18p deletion syndrome with panhypopituitarism
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Emergency Surgery for Inguinal Hernia
대한외과학회 학술대회 초록집
2021 .11
-
A Case of Functional Testicular Torsion Caused by Incarcerated Inguinal Hernia in a Newborn
Neonatal medicine
2021 .11
-
Fundamentals of Inguinal Hernia Repair
대한외과학회 학술대회 초록집
2022 .11
-
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Clinical and Experimental Pediatrics
2015 .01
-
Bilateral Inguinal Hernia. The Incidence Is Higher than We Know
대한외과학회 학술대회 초록집
2020 .11
-
Novel Pathogenic Variant in PIEZO2 in a Korean Patient with Distal Arthrogryposis
대한근전도 전기진단의학회지
2023 .04
이 논문의 저자 정보
최근 본 자료
댓글(0)
0