Onufer C N, Stephan M J, Thuline H C, Char F
Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington 98431.
Ann Genet. 1987;30(4):236-9.
A 22-year-old Caucasian mildly retarded male presented with facial features of high nasal bridge, prominent supraorbital ridges, some malar hypoplasia, prognathism, short philtrum, and prominent full lips associated with shortness of stature, nuchal webbing, and esotropia. His cardiac exam and genital development were normal. The diagnosis of Noonan syndrome had been previously entertained. A chromosome analysis revealed an interstitial deletion of a chromosome 13 at (q21.32q22.3).
一名22岁的高加索裔轻度智障男性，其面部特征为鼻梁高挺、眶上嵴突出、部分颧骨发育不全、下颌前突、人中短以及嘴唇丰满突出，同时伴有身材矮小、颈部蹼状皮肤和内斜视。他的心脏检查和生殖器发育正常。此前曾考虑过努南综合征的诊断。染色体分析显示13号染色体在（q21.32q22.3）处存在间质缺失。
