Fetal megalencephaly with cortical dysplasia at 18 gestational weeks related to paternal upd mosaicism with pten mutation

Keyphrases

• Gestational Week 100%
• Phosphatase 100%
• Tensin Homolog 100%
• Cortical Dysplasia 100%
• Pten 100%
• Megalencephaly 100%
• Mosaicism 100%
• Head Circumference 33%
• Early Pregnancy 16%
• Homologue Gene 16%
• No-report 16%
• Gene mutation 16%
• Tumor Suppressor Gene 16%
• Heterozygous mutation 16%
• Fetal Period 16%
• Amniotic Cells 16%
• Abnormal Phenotype 16%
• Male Fetus 16%
• SNP Array 16%
• B Allele Frequency 16%
• Neurosonography 16%
• Paternal Uniparental Disomy 16%
• Molecular Genetics 16%
• Asymmetric Structure 16%
• Exome Sequencing 16%
• Fetal Diseases 16%
• Prenatal Diagnostics 16%
• Birth Defects 16%
• Early Manifestation 16%
• Homozygous mutation 16%
• Termination of Pregnancy 16%
• Macrocephaly 16%

Biochemistry, Genetics and Molecular Biology

• Dysplasia 100%
• Tensin 100%
• Mosaicism 100%
• Phosphatase 100%
• Single-Nucleotide Polymorphism 16%
• Gene Mutation 16%
• Exome Sequencing 16%
• First Trimester Pregnancy 16%
• Gene Frequency 16%
• Tumor Suppressor Gene 16%
• Amnion Cell 16%
• Uniparental Disomy 16%
• Molecular Genetics 16%