Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

Keyphrases

• Duplication 100%
• Macrocephaly 100%
• Language Delay 100%
• Mild Intellectual Disability 100%
• 4p16.3 Duplication 100%
• Well-defined 50%
• Microarray Experiment 50%
• Three-generation Family 50%
• Minor Anomalies 50%
• Wolf-Hirschhorn 50%
• 4p16.3 50%
• Partial Trisomy 4p 50%
• Intellectual Developmental Disorder 50%
• Chromosome 4p 50%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Trisomy 33%
• Chromosome 4p 33%