Hunter A G, Ray M, Wang H S, Thompson D R
Clin Genet. 1977 Oct;12(4):239-49. doi: 10.1111/j.1399-0004.1977.tb00933.x.
This paper reports two patients with a ring 22 chromosome which has been confirmed by Q-banding. The literature contains 19 patients with a ring G-group chromosome which has been shown by chromosome banding to be a ring 22. The most commonly reported features in affected patients have included: retardation with disproportionate verbal delay, reduced head circumference, hypotonia, unsteady gait, large ears with abnormal configuration, and epicanthic folds. The importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndrome.
本文报告了两名经Q显带证实患有22号环状染色体的患者。文献中包含19名患有G组环状染色体的患者，经染色体显带显示为22号环状染色体。受影响患者最常报告的特征包括：智力发育迟缓且语言延迟不成比例、头围减小、肌张力减退、步态不稳、耳朵大且形态异常以及内眦赘皮。结合可能的r(22)综合征，讨论了这些以及其他较少被注意到的发现的重要性。
