Article
Application of single-sperm sequencing in a male with Marfan syndrome: a case report and a literature review.
Journal of genetics - 1 Jan 2021
Li Chuang, Zhou Feifei, Tan Jichun, Mao Yan, Kong Ling-Yin, Zhao Yan, Zhang Yan, Liang Bo, Li-Ling Jesse, Liu Caixia, Lyu Yuan
Abstract excerpt
Marfan syndrome (MFS) is caused by a FBN1 mutation. Many organ systems are affected in patients with MFS, including the skeletal, ocular, cardiovascular and pulmonary systems. Cardiovascular manifestations are the main cause of mortality in patients with MFS. The mode of inheritance of MFS is autosomal dominant inheritance and the offspring are at great risk for the disease. Thus, the genetic testing for...
Topics
- Female
- Fetus
- Genetic Testing
- Haplotypes
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Marfan Syndrome
- Mutation
- Pedigree
- Pregnancy