一个患有唐氏综合征的家族中的t(5p-;21q+)易位。
A t(5p-;21q+) translocation in a family with Down syndrome.
作者信息
Neu R L, DeGeorge F V, Gardner L I
出版信息
Clin Genet. 1977 Aug;12(2):111-3. doi: 10.1111/j.1399-0004.1977.tb00911.x.
Abstract
A mother and daughter carrying a t(5;21)(p13;q22) chromosome were discovered after they had contacted us for genetic counseling. They were concerned because of two cases of Down syndrome in their family. Four of the mother's eight pregnancies had resulted in miscarriages; the chromosome complements of the abortuses is not known. Evidence was found indicating that individuals carrying a structurally altered chromosome 21 have an increased risk of bearing a child with Down syndrome.
摘要
一位携带t(5;21)(p13;q22)染色体的母女在联系我们进行遗传咨询后被发现。她们因家族中有两例唐氏综合征病例而感到担忧。这位母亲的八次怀孕中有四次以流产告终；流产胎儿的染色体组成情况未知。有证据表明，携带结构改变的21号染色体的个体生育唐氏综合征患儿的风险增加。
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