지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 115 - 119 (5page)
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초록· 키워드
오류제보하기
The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220- kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Barnby G / 2005 / Candidate-gene screening and association analysis at the autismsusceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT / Am J Hum Genet 76:950~966
Kumar RA / 2008 / Recurrent 16p11.2 microdeletions in autism / Hum Mol Genet 17:628~638
Barge-Schaapveld DQ / 2011 / The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome / Am J Med Genet A 155A:1066~1072
Bijlsma EK / 2009 / Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals / Eur J Med Genet 52:77~87
Bamonte L / 2015 / Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome / Pediatr Phys Ther 27:90~99
Kumar RA / 2008 / Recurrent 16p11.2 microdeletions in autism / Hum Mol Genet 17:628~638
Barge-Schaapveld DQ / 2011 / The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome / Am J Med Genet A 155A:1066~1072
Bijlsma EK / 2009 / Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals / Eur J Med Genet 52:77~87
Bamonte L / 2015 / Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome / Pediatr Phys Ther 27:90~99
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