Frydman M, Shabtal F, Halbrecht I, Elian E
J Med Genet. 1981 Oct;18(5):390-2. doi: 10.1136/jmg.18.5.390.
A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.
据报道，一名女婴58%的细胞存在9号染色体三体。她有多种先天性畸形，但精神运动发育正常。在该患者及其母亲体内发现了涉及9号染色体着丝粒异染色质一部分的臂间倒位。这种变异的9号染色体在三体细胞系中呈双份存在。由于在该综合征中反复发现9qh的类似变异，我们认为这种关联可能并非随机。
