Motegi T, Nakamura K, Terakawa T, Oohira A, Minoda K, Kishi K, Yanagawa Y, Hayakawa H
Department of Pediatrics, Tokyo University Hospital Branch, Japan.
J Med Genet. 1988 Sep;25(9):628-30. doi: 10.1136/jmg.25.9.628.
We report a malformed girl with a single chromosome band deletion of 4q26 in peripheral lymphocytes. This patient is the fourth case reported with an interstitial deletion involving 4q26 and has the smallest deletion of those reported. Deletion mapping indicates that psychomotor retardation, coloboma, prominent forehead, epicanthus, broad based nose, and broad, thin upper lip are associated with monosomy 4q26, and that gene(s) associated with Rieger syndrome can be excluded from the 4q26 segment.
我们报告了一名外周血淋巴细胞存在4q26单条染色体带缺失的畸形女孩。该患者是第四例报告的涉及4q26的间质性缺失病例，且是已报告病例中缺失范围最小的。缺失图谱显示，精神运动发育迟缓、缺损、前额突出、内眦赘皮、宽鼻及宽而薄的上唇与4q26单体相关，且与里格尔综合征相关的基因可排除在4q26区段之外。
