Funderburk S J, Sparkes R S, Klisak I
Clin Genet. 1979 Nov;16(5):305-10. doi: 10.1111/j.1399-0004.1979.tb01007.x.
Two severely mentally retarded patients with a ring chromosome 22 presented with disparate phenotypes: one patient manifested only minimal dysmorphic features, whereas the other had a distinctive pattern of anomalies consisting of an abnormal skull configuration with mild maxillary hypoplasia, a large nose, thick full lips, a protruding tongue, lymphedema, hypotonia and an unsteady gait. The findings in these and previously reported patients indicate that a ring chromosome 22 is usually associated with moderate to severe mental retardation, with a range of dysplastic features from mild and nonspecific to more marked and distinctive.
两名患有22号环状染色体的重度智力发育迟缓患者表现出不同的表型：一名患者仅表现出轻微的畸形特征，而另一名患者则有独特的异常模式，包括颅骨形态异常伴轻度上颌骨发育不全、大鼻子、厚而丰满的嘴唇、伸舌、淋巴水肿、肌张力减退和步态不稳。这些患者以及先前报道患者的研究结果表明，22号环状染色体通常与中度至重度智力发育迟缓相关，具有一系列发育异常特征，从轻微和非特异性到更明显和独特。
