학술논문
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication
이용수 0
- 영문명
- 발행기관
- 대한의학유전학회
- 저자명
- In Ae Cho Ji Kwon Park Jong Chul Baek A Na Ha Min Young Kang Jae Ik Lee Ji Eun Park Jeong Kyu Shin Won Jun Choi Soon Ae Lee Jong Hak Lee Won Young Paik
- 간행물 정보
- 『대한의학유전학회지』제12권 제2호, 123~127쪽, 전체 5쪽
- 주제분류
- 의약학 > 기타의약학
- 파일형태
- 발행일자
- 2015.12.31
4,000원
구매일시로부터 72시간 이내에 다운로드 가능합니다.
이 학술논문 정보는 (주)교보문고와 각 발행기관 사이에 저작물 이용 계약이 체결된 것으로, 교보문고를 통해 제공되고 있습니다.
국문 초록
영문 초록
Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/ foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.
목차
키워드
해당간행물 수록 논문
- Validation of fetus aneuploidy in 221 Korean clinical samples using noninvasive chromosome examination
- Application of digital polymerase chain reaction technology for noninvasive prenatal test
- Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX
- Observed frequency of fetal trisomy between 16 and 24 gestational weeks in pregnant women older than 34 years at delivery
- Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication
- Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAtargeted next-generation sequencing
- Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cellfree fetal DNA in maternal plasma
- Noninvasive fetal RHD genotyping using cell-free fetal DNA incorporating fetal RASSF1A marker in RhD-negative pregnant women in Korea
- Advantages of the single nucleotide polymorphismbased noninvasive prenatal test
- Evaluating the results of the Momguard noninvasive prenatal test
- Whole genome sequencing based noninvasive prenatal test
참고문헌
교보eBook 첫 방문을 환영 합니다!
신규가입 혜택 지급이 완료 되었습니다.
바로 사용 가능한 교보e캐시 1,000원 (유효기간 7일)
지금 바로 교보eBook의 다양한 콘텐츠를 이용해 보세요!