Disease: Chromosome 17 Trisomy Mosaicism
- A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease
- Aorta-umbilical vein fistulae in fetus with trisomy-17 mosaicism
- Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells
- Detection of placental mosaic trisomy 17 in a pregnancy associated with mosaicism for trisomy 17 in a single colony at amniocentesis with a favorable outcome
- Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain)
- Identification of Chromosome 17 Trisomy in a Cynomolgus Monkey (Macaca fascicularis) by Multicolor FISH Techniques
- Low-level mosaic trisomy 17 at amniocentesis can be associated with a favorable pediatric outcome: The follow-ups of three consecutive cases
- Low-level mosaic trisomy 17 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy between cultured and uncultured amniocytes
- Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis
- Mosaicism for trisomy 17 in a single colony at amniocentesis in a pregnancy associated with a favorable outcome
- Papillary renal neoplasm with reverse polarity may be a novel renal cell tumor entity with low malignant potential
- Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaic trisomy 12 at amniocentesis associated with a favorable pregnancy outcome
- Prenatal diagnosis of familial transmission of 17q12 microduplication associated with no apparent phenotypic abnormality
- Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome
- Prenatal diagnosis of mosaicism for trisomy 17 in a single colony at amniocentesis with a negative non-invasive prenatal testing (NIPT) result in a pregnancy with a favorable outcome
- Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p
- The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17