五X综合征

Monheit A, Francke U, Saunders B, Jones K L

J Med Genet. 1980 Oct;17(5):392-6. doi: 10.1136/jmg.17.5.392.

A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromosome replication studies using BrdU labelling in the patient's cells clearly showed that the four presumably inactive X chromosomes were late replicating but not in a strictly synchronous fashion.

一名儿童被发现具有49,XXXXX染色体组成，这使具有这种核型的儿童总数达到了12名。将该儿童的特征与先前报道的病例进行比较，发现了一种临床上可识别的特定畸形模式，称为五X综合征。在患者细胞中使用溴脱氧尿苷（BrdU）标记进行的X染色体复制研究清楚地表明，四条可能失活的X染色体复制较晚，但并非严格同步。