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(二)常染色体畸变所引起的综合征常染色体畸变所引起的综合征已发现有几十种,以下举例简述。1.先天愚型(Down综合征)这是一种最常见的染色体病,群体中的发病率约占1/600～1/800。患儿呈特殊的呆滞面容:眼裂小、眼角外侧上倾、眼间距宽、鼻根低平、颌小、腭狭、口常半开、舌常伸出口外并有舌裂。新生儿常有第三囟门(图12)。四肢关节可过度屈曲,肌张力低。指短,小指的中间指骨发育不良。(足母)趾与第二趾之间相距较大。50%左右的患儿有先天性心脏病,其中室间隔缺损约占50%。
(B) of the syndrome caused by autosomal aberrations Syndromes caused by autosomal aberrations have found dozens of species, the following examples are brief. 1. Down’s syndrome (Down syndrome) This is the most common chromosomal disease, the incidence of the group accounts for about 1/600 ~ 1/800. Children with a special dull face: small ocular fissure, lateral tilt on the corner of the eye, wide interocular distance, nasal flat, jaw small, narrow palate, mouth often half open, tongue often extended outside the tongue and tongue out. Newborns often have a third fontanelle (Figure 12). Extremities joints can be over-flexion, low muscle tension. Refers to the short, middle finger phalanx dysplasia. (Feet) toe and second toe between the larger. About 50% of children with congenital heart disease, of which about 50% of ventricular septal defect.