Kleczkowska A, Fryns J P, D'Hondt F, Jaeken J, Van den Berghe H
Ann Genet. 1987;30(1):47-51.
We report on 2 patients, less than age 5 years, and one adult patient with partial duplication 8p, due to interstitial duplication of bands 8p21.1-22. The phenotype in young and adult patients with this chromosomal unbalance syndrome is further documented. In young patients the craniofacial manifestations are very similar to trisomy 8 mosaicism. However, mental retardation is much more pronounced in 8p21-22 duplication than in trisomy 8 mosaicism. The phenotypic changes observed in adult patients are probably secondary and they are due to the great neurologic deficit with generalized spasticity and hypertonia.
我们报告了2例年龄小于5岁的患者以及1例成年患者，他们均因8p21.1-22带的间质性重复而出现8p部分重复。这种染色体不平衡综合征在年轻和成年患者中的表型得到了进一步记录。在年轻患者中，颅面表现与8号染色体三体镶嵌现象非常相似。然而，8p21-22重复患者的智力迟钝比8号染色体三体镶嵌患者更为明显。成年患者中观察到的表型变化可能是继发性的，这是由于严重的神经功能缺陷伴全身痉挛和张力亢进所致。
