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
- 2020.1
- 수록면
- 207 - 213 (7page)
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초록· 키워드
오류제보하기
14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing the diagnosis is often difficult, as the condition cannot be detected with routine chromosome analysis. In this report, we present a patient with intrauterine growth retardation, microcephaly, muscle weakness, seizures, and hypoplasia of the corpus callosum who underwent diagnostic tests, including karyotyping in the neonatal period without leading to a specific diagnosis. The patient was confirmed with a serious developmental disorder, and a chromosomal microarray analysis was performed at 8 months of age, revealing a 14q12q13.3 deletion. In this case, the condition was diagnosed in early infancy, in contrast to previously reported cases, and the patient had diverse and severe symptoms. Establishing the diagnosis of 14q12q13.3 deletion syndrome allows better management of patient care and genetic counseling for the parents.
목차
등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Ponzi E / 2020 / 14q12q13.2 microdeletion syndrome: clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies / Mol Genet Genomic Med 8:e1289
Santen GW / 2012 / Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus / J Med Genet 49:366~372
Resta N / 2012 / Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? / J Matern Fetal Neonatal Med 25(Suppl 4):124~126
Miller DT / 2010 / Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies / Am J Hum Genet 86:749~764
Feldkamp ML / 2017 / Etiology and clinical presentation of birth defects : population based study / BMJ 357:j2249
Santen GW / 2012 / Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus / J Med Genet 49:366~372
Resta N / 2012 / Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful? / J Matern Fetal Neonatal Med 25(Suppl 4):124~126
Miller DT / 2010 / Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies / Am J Hum Genet 86:749~764
Feldkamp ML / 2017 / Etiology and clinical presentation of birth defects : population based study / BMJ 357:j2249
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