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.
초록· 키워드
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A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging and electroencephalogram results. Antemortem chromosomal banding revealed a normal karyotype. A legal autopsy was requested to eliminate the possibility of neglect or abuse by his parents. The autopsy findings revealed type I lissencephaly with the associated microcephaly. No external wounds or decubitus ulcers were noted. Postmortem fluorescence in situ hybridization for the LIS1 locus and nucleotide sequence analysis of the whole coding regions of the LIS1gene did not reveal any deletions. The antemortem and postmortem findings revealed that lissencephaly syndrome was associated with isolated lissencephaly sequence.
External causes of death were excluded by the full autopsy and toxicology test results.
Because patients with mental retardation are frequently victimized and suffer neglect or abuse, thorough external and internal examinations should be conducted at the time of autopsy.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Chong SS / 1997 / A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3 / Hum Mol Genet 6 : 147 ~ 155
De Paul J / 2008 / Empathy and child neglect: a theoretical model / Child Abuse Negl 32 : 1063 ~ 1071
Dobyns WB / 1984 / Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly / Am J Med Genet 18 : 509 ~ 526
Dobyns WB / 1991 / Vascular abnormalities in epidermal nevus syndrome / Neurology 41 : 276 ~ 278
Dobyns WB / 1993 / Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13 / JAMA 270 : 2838 ~ 2842
De Paul J / 2008 / Empathy and child neglect: a theoretical model / Child Abuse Negl 32 : 1063 ~ 1071
Dobyns WB / 1984 / Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly / Am J Med Genet 18 : 509 ~ 526
Dobyns WB / 1991 / Vascular abnormalities in epidermal nevus syndrome / Neurology 41 : 276 ~ 278
Dobyns WB / 1993 / Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13 / JAMA 270 : 2838 ~ 2842
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