17号染色体嵌合三倍体
Mosaic trisomy 17 syndrome
ORPHA:1711疾病
定义 英文原文（暂无中文）
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.
别名
嵌合17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 20
常见 79–30%15
- 注意力缺陷多动障碍 HP:0007018
- 小脑发育不全 HP:0001321
- 语言发育迟缓 HP:0000750
- 全面发育迟缓 HP:0001263
- 听力受损 HP:0000365
- 眼距过宽 HP:0000316
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 小头畸形 HP:0000252
- 下颌小且后移 HP:0000308
- 出生后生长迟缓 HP:0008897
- 癫痫发作 HP:0001250
- 单脐动脉 HP:0001195
- 室间隔缺损 HP:0001629
偶见 29–5%5
- 囊状水瘤 HP:0000476
- 腹股沟疝 HP:0000023
- 下肢不对称 HP:0100559
- 脊柱侧弯 HP:0002650
- 巨脑室 HP:0002119
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）