[Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)].
作者信息
Savary J B, Cousin J, Laï J L, Deminatti M
出版信息
Ann Genet. 1977 Jun;20(2):122-7.
PMID:302686
Abstract
A translocation affecting chromosomes 8 and 12 was detected in 11 persons of 3 generations of a family. The propositus, a child with multiple malformations, had a mosaicism consisting of (a) cells with 46 chromosomes which included the balanced translocation and (b) cells with 47 chromosomes and partially trisomic for chromosomes 8 and 12.
摘要
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