18号染色体等臂染色体[46,XY,i(18q)]病例中的18三体和18p-特征：产前诊断与尸检报告
Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report.
作者信息
Wurster-Hill D H, Marin-Padilla J M, Moeschler J B, Park J P, McDermet M
机构信息
Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, N.H.
出版信息
Clin Genet. 1991 Feb;39(2):142-8. doi: 10.1111/j.1399-0004.1991.tb03001.x.
Abstract
This paper reports the prenatal diagnosis and autopsy findings of a case of true isochromosome 18q [46,XY,i(18q)] with severe cephalic malformations. Comparison is made with other cases of i(18q).
摘要
本文报告了一例患有严重头部畸形的真正18号染色体长臂等臂染色体[46,XY,i(18q)]的产前诊断及尸检结果。并与其他18号染色体长臂等臂染色体病例进行了比较。
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