12号染色体嵌合三倍体

定义 英文原文（暂无中文）

Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.

别名

嵌合12号染色体三体

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 19

外部标识与链接