Reardon P C, Greenstein R M, Howard R O, Gianacopolos E K, Breg W R
Am J Med Genet. 1981;10(2):113-8. doi: 10.1002/ajmg.1320100204.
A body with the 13 trisomy syndrome was found to have a unique form of mosaicism in which each of the two cell lines had different structural rearrangements. The predominant cell line was partially trisomic for the distal portion of the long arm of chromosome 13, while the minor cell line was trisomic for all of the long arm of 13. The patient is also unusual because he had congenital glaucoma and was still alive at 10 years.
发现一名患有13三体综合征的患者具有一种独特的嵌合形式，其中两个细胞系中的每一个都有不同的结构重排。主要细胞系在13号染色体长臂的远端部分为部分三体，而次要细胞系则在13号染色体的整个长臂上为三体。该患者也很特别，因为他患有先天性青光眼，并且在10岁时仍然存活。
