14) translocation were noted in patients with short stature, and all of these cases were found to have a specific genetic syndrome – maternal uniparental disomy (UPD) of chromosome 14.
14)染色体移位在身材短小的病人上发现，这些病例发现都属于一种特殊遗传症候群-第十四母体单亲双染色体。
Uniparental disomy
英语例句库
原声例句
Osmosis-遗传
A second way is called maternal uniparental disomy, which means two chromosomes from one parent—the mother.
第二个导致父源基因不表达的原因是母源单亲二体，即两条同源染色体都来自母方。
英语百科
Uniparental disomy
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent (an earlier stage meiosis I error) or isodisomy, in which a single chromosome from one parent is duplicated (a later stage meiosis II error). Uniparental disomy may have clinical relevance for several reasons. For example, either isodisomy or heterodisomy can disrupt parent-specific genomic imprinting, resulting in imprinting disorders. Additionally, isodisomy leads to large blocks of homozygosity, which may lead to the uncovering of recessive genes, a similar phenomenon seen in children of consanguineous partners.