Keeling S L, Lee-Jones L, Thompson P
Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Am J Med Genet. 2001 Mar 1;99(2):94-8. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1134>3.0.co;2-d.
We report on an infant with Robin sequence; mild developmental delay; a left ulnar ray defect with absent ulna and associated metacarpals, carpals and phalanges; and a right ulnar nerve hypoplasia. He had a de novo interstitial deletion of 4q32-->q34. The critical region involved in the 4q terminal deletion syndrome may be 4q33. This conclusion was suggested by showing that del(4)(q31qter), del(4)(q32qter), and del(4)(q33qter) result in a similarly severe phenotype. In addition, we propose that genes for distal arm development, in particular for development of the left ulnar ray, central nervous system development, and cleft lip and palate, may be located at 4q33.
我们报告了一名患有罗宾序列征、轻度发育迟缓、左侧尺骨射线缺陷（尺骨及相关掌骨、腕骨和指骨缺失）以及右侧尺神经发育不全的婴儿。他存在4q32→q34的新生间质性缺失。4q末端缺失综合征所涉及的关键区域可能是4q33。这一结论是通过显示del(4)(q31qter)、del(4)(q32qter)和del(4)(q33qter)导致相似的严重表型而得出的。此外，我们提出，负责上肢远端发育，特别是左侧尺骨射线发育、中枢神经系统发育以及唇腭裂的基因，可能位于4q33。
