Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling

Keyphrases

• Genetic Counseling 100%
• Gonosomal Mosaicism 100%
• X-linked Agammaglobulinemia 100%
• Bruton's Tyrosine Kinase 60%
• De-novo mutations 40%
• Well-defined 20%
• Misinterpretation 20%
• Most Common Form 20%
• Sanger 20%
• High Coverage 20%
• Recurrence Risk 20%
• Immunodeficiency 20%
• Inheritance Pattern 20%
• Missense mutation 20%
• Hypogammaglobulinemia 20%
• Recurrent Bacterial Infections 20%
• Massively Parallel Sequencing 20%
• Vaginal Swab 20%
• Patient mutations 20%
• Buccal Swab 20%
• Electropherogram 20%
• X-linked Inheritance 20%
• Circulating B Cells 20%
• Low-level Mosaicism 20%
• Agammaglobulinemia 20%

Biochemistry, Genetics and Molecular Biology

• Genetic Counseling 100%
• Mosaicism 100%
• Bruton Tyrosine Kinase 100%
• Wild Type 33%
• X-Linked Recessive Inheritance 33%
• B Cell 33%
• Inheritance 33%
• Missense Mutation 33%
• Electrophoresis 33%