DeLozier C D, Theintz G, Sizonenko P, Engel E
Clin Genet. 1982 Aug;22(2):90-8. doi: 10.1111/j.1399-0004.1982.tb01419.x.
An 8-year-old child with a ring chromosome 7 is presented, the first female and the fourth such individual to be described. The associated anomalies were rather benign: she presented with short stature, minor skeletal alterations, and normal intelligence. The only truly striking feature was the presence of multiple large, pigmented naevi, suggestive of a hamartomatous origin, but unlike those typical of any particular syndrome. Though other ring 7 patients have had naevus flammeus, and one had café-au-lait spots, our proband is the first with an anomaly of chromosome 7 to have such extensive lesions. These four cases of ring 7, which show great phenotypic variation, are reviewed, and the clinical presentation of the proband is also compared with that of patients suffering from terminal, interstitial and translocation-derived 7p and 7q deletions. The formation and behavior of ring chromosomes are discussed, as are the cytogenetic factors which may influence their phenotypic expression.
本文报告了一名患有环状染色体7的8岁儿童，这是首例被描述的女性环状染色体7患者，也是第四例此类患者。其相关异常情况相对良性：身材矮小、骨骼有轻微改变、智力正常。唯一真正显著的特征是存在多个大的色素痣，提示错构瘤起源，但与任何特定综合征的典型表现不同。尽管其他环状染色体7患者有鲜红斑痣，还有一名患者有咖啡斑，但我们的先证者是首例环状染色体7异常且有如此广泛病变的患者。对这4例表现出极大表型变异的环状染色体7病例进行了回顾，并将先证者的临床表现与患有末端、中间和易位衍生的7p和7q缺失的患者进行了比较。文中讨论了环状染色体的形成和行为，以及可能影响其表型表达的细胞遗传学因素。
