20号染色体嵌合三体
Mosaic trisomy 20 syndrome
定义 英文原文（暂无中文）
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.
别名
20号染色体嵌合三体
基本事实
- 发病年龄
- 产前、新生儿期
临床表型 39
极常见 99–80%1
- 婴儿型肌张力减退 HP:0008947
常见 79–30%7
- 脊髓形态异常 HP:0002143
- 慢性便秘 HP:0012450
- 皮肤色素脱失/色素沉着 HP:0007483
- 肩下斜 HP:0200021
- 色素减退纹 HP:0007535
- 轻度全面发育延迟 HP:0011342
- 下颌后缩 HP:0000278
偶见 29–5%30
- 二尖瓣形态异常 HP:0001633
- 肾脏异常 HP:0000077
- 唇裂 HP:0410030
- 腭裂 HP:0000175
- 指（趾）内弯 HP:0030084
- 颅面不对称 HP:0004484
- 隐睾 HP:0000028
- 语言发育迟缓 HP:0000750
- 构音障碍 HP:0001260
- 三尖瓣发育不良 HP:0030732
- 颈椎融合 HP:0002949
- 听力受损 HP:0000365
- 马蹄肾 HP:0000085
- 肌张力减退 HP:0001252
- 胎儿宫内发育迟缓 HP:0001511
- 脊柱后凸畸形（驼背） HP:0002808
- 前臂旋前或旋后受限 HP:0006394
- 长颈 HP:0000472
- 小下颌 HP:0000347
- 运动发育迟缓 HP:0001270
- 窄胸 HP:0000774
- 脊柱侧弯 HP:0002650
- 特定的学习障碍 HP:0001328
- 椎管狭窄 HP:0003416
- 斜视 HP:0000486
- 睑裂上斜 HP:0000582
- 室间隔缺损 HP:0001629
- 椎体融合 HP:0002948
- 椎体分节缺陷 HP:0003422
- 乳头间距宽 HP:0006610
排除 0%1
- 智力障碍 HP:0001249
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）