Article
Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.
Molecular medicine reports - 1 Nov 2017
Wu Dong, Zhang Hui, Hou Qiaofang, Wang Hongdan, Wang Tao, Liao Shixiu
Abstract excerpt
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and...
Topics
- Abnormalities, Multiple
- Adult
- Child
- Chromosome Disorders
- Chromosomes, Human, Pair 4
- Female
- Genotype
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Monosomy
- Phenotype
- Translocation, Genetic
- Trisomy