LD45.0
母源单亲二倍体
Uniparental disomies of maternal origin
- 上级条目
- LD45 单亲二倍体
- 层级
- 4 级
定义
一条染色体的两个同源拷贝来自母亲，而没有一个来自父亲为特征的任何疾病。通过观察相同的染色体对，并通过基因检测与母体染色体配对进行确诊。
Any disease characterised by the inheritance of two homologous copies of a chromosome from the mother, and none from the father. Confirmation is by observation of identical chromosome pairs, and matching to a maternal chromosome, by genetic testing.
索引词 可用于检索该条目的同义词与别名
- 母源单亲二倍体
- 母源性1号染色体单亲二倍体
- 母源性2号染色体单亲二倍体
- 母源性4号染色体单亲二倍体
- 母源性6号染色体单亲二倍体
- 母源性7号染色体单亲二倍体
- 母源性9号染色体单亲二倍体
- 母源性11号染色体单亲二倍体
- 母源性13号染色体单亲二倍体
- 母源性14号染色体单亲二倍体
- 母源性15号染色体单亲二倍体
- 母源性16号染色体单亲二倍体
- 母源性20号染色体单亲二倍体
- 母源性21号染色体单亲二倍体
- 母源性22号染色体单亲二倍体
- 母源性X染色体单亲二倍体
英文词条（16）
- Uniparental disomies of maternal origin
- Maternal uniparental disomy of chromosome 1
- Maternal uniparental disomy of chromosome 2
- Maternal uniparental disomy of chromosome 4
- Maternal uniparental disomy of chromosome 6
- Maternal uniparental disomy of chromosome 7
- Maternal uniparental disomy of chromosome 9
- Maternal uniparental disomy of chromosome 11
- Maternal uniparental disomy of chromosome 13
- Maternal uniparental disomy of chromosome 14
- Maternal uniparental disomy of chromosome 15
- Maternal uniparental disomy of chromosome 16
- Maternal uniparental disomy of chromosome 20
- Maternal uniparental disomy of chromosome 21
- Maternal uniparental disomy of chromosome 22
- Maternal uniparental disomy of chromosome X
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。