Article
Uniparental disomy and prenatal phenotype: Two case reports and review.
Medicine - 1 Nov 2017
Li Xiaofei, Liu Yan, Yue Song, Wang Li, Zhang Tiejuan, Guo Cuixia, Hu Wenjie, Kagan Karl-Oliver, Wu Qingqing
Abstract excerpt
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal...
Topics
- Adult
- Chromosomes, Human, Pair 14
- Female
- Humans
- Phenotype
- Polymorphism, Single Nucleotide
- Pregnancy
- Ultrasonography, Prenatal
- Uniparental Disomy