四倍体
Tetraploidy syndrome
ORPHA:3305疾病
定义 英文原文（暂无中文）
Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.
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 17
极常见 99–80%5
- 染色体分离异常 HP:0002916
- 双侧顶骨部收窄 HP:0004422
- 凸鼻嵴 HP:0000444
- 胎儿宫内发育迟缓 HP:0001511
- 小头畸形 HP:0000252
常见 79–30%4
- 耳软骨发育不全 HP:0100720
- 小下颌 HP:0000347
- 桡偏畸形手 HP:0004059
- 人中短 HP:0000322
偶见 29–5%8
- 眼睛发育缺陷/不全 HP:0008056
- 肺发育缺陷/不全 HP:0006703
- 胸腺未发育/发育不全 HP:0010515
- 小脑扁桃体下疝畸形 HP:0002308
- 腭裂 HP:0000175
- 肾积水 HP:0000126
- 耳前皮赘 HP:0000384
- 肾发育不良/不全 HP:0008678
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）