Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

Keyphrases

• Catalonia 100%
• Spain 100%
• Newborn Screening 100%
• 22q11.2 Deletion Syndrome 100%
• Severe Combined Immunodeficiency 100%
• T-cell Receptor Excision Circles 40%
• Multidisciplinary Team 20%
• Counseling 20%
• Copy number Variation 20%
• Proactive Approach 20%
• Array Comparative Genomic Hybridization (aCGH) 20%
• T Cells 20%
• Duplication 20%
• Trisomy 21 20%
• Quantitative PCR Assay 20%
• Microdeletion Syndrome 20%
• DNA Studies 20%
• T Cell Development 20%
• Immunodeficiency Diseases 20%
• CHARGE Syndrome 20%
• Deletion 22q11 20%

Biochemistry, Genetics and Molecular Biology

• Newborn Screening 100%
• T-Cell Receptor Excision Circles 50%
• T Cell 50%
• Copy-Number Variation 25%
• Array Comparative Genomic Hybridization 25%
• Screening 25%
• Trisomy 21 25%
• Real-Time Polymerase Chain Reaction 25%
• Cell Maturation 25%
• Multiplex Ligation-Dependent Probe Amplification 25%