14年来已有26例11 q缺失的病例报道,这些病的体征极相似,因而被归结为11 q-综合征。表现为三角头畸形、眼距过宽、睑裂下斜、上睑下垂、眼缺损、低位耳及耳形异常,鼻根低平、鼻尖上翘、“鲤鱼嘴”,高弓腭,小颌、马蹄形内翻足畸形、指弯曲、猿掌,先心病和智力低下。约1/3病人死于婴幼儿期。男女性比为5∶1。染色体缺失多发生在q23,只有一例发生在q21。未见嵌合型报道。独眼畸形和无嗅脑畸形属于全前脑畸形的一部分。全前脑畸形虽多为散发性且病因不清,它可能为常染色体显性或隐性遗传,或由特定染色体异常及环境因素所 Twenty-six cases of 11-q deletion have been reported over the past 14 years and the signs of these diseases are very similar and are therefore attributed to 11-syndrome. The performance of the triangular head deformity, the eye is too wide, palpebral fissure, blepharoptosis, eye defects, low ear and ear abnormalities, nasal low nose, upturned nose, “carp mouth”, high bow palate, small jaw , Horseshoe cataract foot deformity, refers to bending, ape palm, congenital heart disease and mental retardation. About 1/3 of the patients died of infancy. Male to female ratio is 5: 1. Chromosome loss occurred in q23, only one case occurred in q21. No chimeric reports. One-eyed deformity and no-snake brain deformity are part of an anterior cerebral anterior deformity. Although the whole anterior cerebral malformations are mostly sporadic and unclear etiology, it may be autosomal dominant or recessive inheritance, or by specific chromosomal abnormalities and environmental factors