학술논문
Paracentric Inversions Found in Prenatal Diagnosis
이용수 8
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- Shin Yeong Lee Bom Yi Lee Ju Yeon Park Eun Young Choi Yeon Woo Lee Ah Rum Oh Hyun Mee Ryu So Yeon Park
- 간행물 정보
- 『대한의학유전학회지』제10권 제2호, 104~108쪽, 전체 5쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2013.10.31
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국문 초록
영문 초록
Purpose: This study was designed to confirm whether the paracentric inversions of fetuses and parents may be harmless.
Materials and methods: We report 10 cases (0.14%) with paracentric inversions among 7,181 prenatal cases observed during prenatal diagnosis performed at Cheil General Hospital between January 2009 and June 2013. We used cytogenetic GTLand RBG-banding techniques.
Results: Of the 10 cases, nine cases were transmitted from each of the parents, and one case was de novo. Nine cases were phenotypically normal up to one month of age after birth. One case was lost to follow-up. We present prenatal diagnosis and follow-up examination of the fetuses with paracentric inversion.
Conclusion: Based on our cases, most paracentric inversions are considered to be harmless. The precise identification of paracentric inversions might be clinically important and helpful for genetic counseling.
목차
Abstract
Introduction
Materials and Methods
Results
Discussion
References
해당간행물 수록 논문
- Prenatal Diagnosis of Chromosome 22q11.2 Deletions: Experiences in a Single Institution
- Pseudohypoaldosteronism Type 1
- Alexander Disease
- A Neonatal Form of Alexander Disease Presented with Intractable Seizures and Obstructive Hydrocephalus
- One Case of BRCA2 Germline Mutation Ovarian Cancer Mother and Carrier Daughter found by Genetic Counseling
- A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome
- Female Carriers of Duchenne Muscular Dystrophy
- A Rare Case of Double Trisomy Mosaicism: 47,XXX/47,XX,+8
- Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases
- Paracentric Inversions Found in Prenatal Diagnosis
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