Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

Keyphrases

• Autosomal Recessive Inheritance 100%
• Multigenerational 100%
• Chromosomal Deletion 100%
• 5p Deletion 100%
• Phenotypic Characteristics 40%
• Dysmorphic Facial Features 40%
• CAT-like 40%
• Autosomal Dominant 20%
• Intellectual Disability 20%
• Environmental Factors 20%
• Clinical Manifestations 20%
• Comparative Analysis 20%
• Gene Content 20%
• Poor Growth 20%
• Microarray 20%
• Genetic Factors 20%
• Study Support 20%
• Mode of Inheritance 20%
• Short-arm 20%
• Autistic Traits 20%
• Phenotypic Variation 20%
• Microcephaly 20%
• Familial Cases 20%
• SnRNA 20%
• Fluorescence in Situ Hybridization Analysis 20%
• RNA Transcription 20%
• Genotype-phenotype Correlation 20%
• Rare Presentation 20%
• Phenotypic Heterogeneity 20%
• Chromosome 5 20%
• Terminal Deletion 20%
• Cognitive Phenotype 20%
• Neuropsychiatric 20%
• CTNND2 20%
• High-resolution Studies 20%
• Multigenerational Families 20%
• Minimal Critical Region 20%
• Deletion Breakpoint 20%
• SEMA5A 20%
• Modifying Elements 20%
• ICE1 20%
• Cri Du Chat Syndrome 20%

Biochemistry, Genetics and Molecular Biology

• Autosomal Dominant Inheritance 100%
• Fluorescence in Situ Hybridization 50%
• Genetics 50%
• Infancy 50%
• Candidate Gene 50%
• Intellectual Disability 50%
• RNA Transcription 50%
• Phenotypic Heterogeneity 50%
• Chromosome 5 50%
• Small Nuclear RNA 50%
• Cri Du Chat 50%
• Genotype-Phenotype Correlation 50%