Schrander-Stumpel C T, Govaerts L C, Engelen J J, van der Blij-Philipsen M, Borghgraef M, Loots W J, Peters J J, Rijnvos W P, Smeets D F, Fryns J P
Division of Human Genetics, University of Limburg, Maastricht, The Netherlands.
Am J Med Genet. 1994 May 1;50(4):377-80. doi: 10.1002/ajmg.1320500416.
We report on 2 girls with mosaic tetrasomy 8p. Patient 1 showed the extra iso 8p chromosome in 20% of cultured lymphocytes and 18% of cultured fibroblasts [46,XX/47,XX,+i(8p)]. She presented with growth retardation, mild facial alterations, and motor developmental delay. Patient 2 presented with developmental delay, hypotonia, and slight facial alterations; she had the extra iso 8p chromosome in 94% of cultured peripheral lymphocytes. The patients are compared to the 6 previously reported cases. In our experience, the presently reported patients clinically resemble children with inv dup(8)(p21-p22) and patients with mosaic trisomy 8.
我们报告了2例8号染色体短臂嵌合性四体综合征的女孩。患者1在20%的培养淋巴细胞和18%的培养成纤维细胞中显示出额外的等臂8号染色体短臂[46,XX/47,XX,+i(8p)]。她表现出生长发育迟缓、轻度面部改变和运动发育迟缓。患者2表现出发育迟缓、肌张力减退和轻微面部改变；她在94%的培养外周淋巴细胞中存在额外的等臂8号染色体短臂。将这些患者与先前报道的6例病例进行了比较。根据我们的经验，目前报道的患者在临床上与inv dup(8)(p21-p22)患儿及8号染色体嵌合性三体患儿相似。
