产前诊断过程中遇到的罕见20号染色体变异。
Rare chromosome 20 variants encountered during prenatal diagnosis.
作者信息
Petersen M B
出版信息
Prenat Diagn. 1986 Sep-Oct;6(5):363-7. doi: 10.1002/pd.1970060504.
PMID:3774765
Abstract
A case with an uncommon heteromorphism in the centromeric region of chromosome 20, var (20) (cen, CBG 50), and a family with a pericentric inversion of chromosome 20, inv (20) (p11.23qll.21), are reported, both detected in amniotic fluid cell cultures. It appears that small pericentric inversions of chromosome 20 have a low risk of recombination.
摘要
报道了1例20号染色体着丝粒区域存在罕见异形性，即var(20)(cen, CBG 50)，以及1个家系20号染色体臂间倒位，即inv(20)(p11.23q11.21)，二者均在羊水细胞培养中检测到。看来20号染色体小的臂间倒位重组风险较低。
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