Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8).
作者信息
Ray M, Hunter A G
出版信息
Ann Genet. 1980;23(2):100-2.
PMID:6967279
Abstract
We report a girl with partial trisomy-8 mosaicism whose clinical findings were those of the Warkany et al. (1962) [17] or trisomy 8 syndrome. A dicentric autosome, dic(8) (qter leads to p21::p21 leads to qter), was found in all abnormal cells and evidence is presented that one centromere was inactive, allowing the dicentric to behave as a monocentric chromosome. The parents had normal karyotypes.
摘要
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