Proops R, Webb T
J Med Genet. 1981 Oct;18(5):366-73. doi: 10.1136/jmg.18.5.366.
A clinical and cytogenetic study has been made of subjects from families who have possible X linked mental retardation. The families were distinguished as those with a clinical diagnosis of Renpenning syndrome and those with other behavioural or physical abnormalities obviating such a diagnosis. All subjects with REnpenning syndrome carried a fragile Xq27-28 chromosome in more than 4% of their blood lymphocytes. In addition, two other families who did not have Renpenning syndrome but had similar clinical features also carried the fragile site Xq27-28. A female age effect was observed and one possible carrier of Renpenning syndrome exhibited the fragile X in 10% of her lymphocytes but was also mentally retarded. Subjects within the same family did not always exhibit the fragile site on a comparable proportion of their cells.
对来自可能患有X连锁智力迟钝家庭的受试者进行了临床和细胞遗传学研究。这些家庭被区分为临床诊断为伦彭宁综合征的家庭以及有其他行为或身体异常而无法进行此类诊断的家庭。所有患有伦彭宁综合征的受试者，其血液淋巴细胞中超过4%携带有脆性Xq27 - 28染色体。此外，另外两个没有伦彭宁综合征但有相似临床特征的家庭也携带脆性位点Xq27 - 28。观察到了女性年龄效应，一名可能的伦彭宁综合征携带者其淋巴细胞中有10%表现出脆性X，但也有智力迟钝。同一家庭中的受试者在其细胞的相当比例上并不总是表现出脆性位点。
