21号染色体单体：核型可能的逐步演变
Monosomy 21: a possible stepwise evolution of the karyotype.
作者信息
Abeliovich D, Carmi R, Karplus M, Bar-Ziv J, Cohen M M
出版信息
Am J Med Genet. 1979;4(3):279-86. doi: 10.1002/ajmg.1320040311.
We describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis-like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,-21/46,XX,del(21)(q11)46,XX. The existence of these three lines suggests a possible explanation for the few cases of "complete monosomy 21" which have been reported.
我们描述了一名女婴，其表现为21号染色体完全单体性，包括宫内生长迟缓、发育不良、颅面畸形、类关节挛缩特征以及精神运动发育迟缓。染色体分析显示，在所检查的各种组织中存在三种不同细胞系的嵌合体；45,XX,-21/46,XX,del(21)(q11)46,XX。这三种细胞系的存在为已报道的少数“21号染色体完全单体性”病例提供了一种可能的解释。
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