Ogata T, Matsuo N, Shimizu N
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Am J Med Genet. 1990 Feb;35(2):241-4. doi: 10.1002/ajmg.1320350219.
We describe a 15 10/12-year-old boy (Tanner stage 4, peak growth velocity 7 cm/year) with a ring X chromosome who presented with extreme short stature (mean -5.3 SD) as the sole recognizable abnormality. His chromosome constitution was determined to be 46,Y,r(X)(p22.33q28) in 174 of 182 peripheral blood cells and in 35 skin fibroblasts. Of the remaining eight peripheral blood cells, five had a dicentric double-size ring and three had a smaller ring. Other laboratory studies for short stature were noncontributory. We suspect that the ring's specific behavior in mitosis or its effect on expression of the statural determinant on the X chromosome short arm may be responsible for short stature in this patient.
我们描述了一名15又10/12岁的男孩（ Tanner分期4期，身高生长峰值速度为每年7厘米），其带有一条环状X染色体，表现为极度矮小（平均低于标准差5.3），这是唯一可识别的异常情况。在182个外周血细胞中的174个以及35个皮肤成纤维细胞中，确定其染色体组成是46,Y,r(X)(p22.33q28)。其余8个外周血细胞中，5个有双着丝粒双倍大小的环，3个有较小的环。针对矮小症的其他实验室检查无异常发现。我们怀疑该环状染色体在有丝分裂中的特殊行为或其对X染色体短臂上身高决定因素表达的影响可能是该患者身材矮小的原因。
