A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

Keyphrases

• Duplication 100%
• Microduplication Syndrome 100%
• 17p Deletion 100%
• Deletion Syndrome 100%
• Moderate to Severe 33%
• Developmental Delay 33%
• Array Comparative Genomic Hybridization (aCGH) 33%
• Clinical Features 16%
• Patient Files 16%
• Retardation 16%
• Clinical Information 16%
• Brain Malformation 16%
• Phenotypic Characteristics 16%
• Microarray Technology 16%
• Microduplication 16%
• Microdeletion Syndrome 16%
• Multiplex Ligation-dependent Probe Amplification 16%
• Facial Dysmorphism 16%
• Hypotonia 16%
• PAFAH1B1 16%
• Developmentally Delayed 16%
• 17p13.1 16%
• Lissencephaly 16%
• Agilent 16%
• Miller-Dieker Syndrome 16%
• Hybridization Analysis 16%

Biochemistry, Genetics and Molecular Biology

• Comparative Genomic Hybridization 100%
• Multiplex Ligation-Dependent Probe Amplification 50%
• PAFAH1B1 50%
• Lissencephaly 50%
• Miller-Dieker Syndrome 50%