Disease: Chromosome 16- uniparental disomy
- A Rare Case of Hemoglobin Bart's Hydrops Fetalis due to Uniparental Disomy of Chromosome 16
- Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype
- Confined placental trisomy detection through non-invasive prenatal testing: benefit for pregnancy management
- Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
- Foetal phenotype of ALG1-CDG caused by paternal uniparental disomy 16
- Loss of imprinting of the human-specific imprinted gene <em>ZNF597</em> causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
- Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome
- Mosaic trisomy 16 at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for trisomy 16, placental trisomy 16, intrauterine growth restriction, intrauterine fetal death, cytogenetic discrepancy between cultured amniocytes a
- Novel parent-of-origin-specific differentially methylated loci on chromosome 16
- Paternal uniparental disomy of chromosome 16 resulting in homozygosity of a GPT2 mutation causes intellectual and developmental disability
- PLACENTAL MOSAICISM: COMPLETE DISCORDANCE BETWEEN THE PLACENTA AND THE FETUS. CLINICAL CASE RECORD
- PMM2 and NARFL are paternally imprinted genes in bovines
- PMM2-CDG caused by uniparental disomy: Case report and literature review
- Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus
- Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome