Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst

Keyphrases

• Intractable Seizures 100%
• Microdeletion Syndrome 100%
• Choledochal Cyst 100%
• Renal Anomalies 100%
• Congenital Microcephaly 100%
• Moderate to Severe 50%
• SNP 50%
• Intractable Epilepsy 50%
• Short-arm 50%
• Developmental Delay 50%
• Haploinsufficiency 50%
• Affymetrix 50%
• Microdeletion 50%
• Ultra-high Resolution 50%
• Chromosome 2 50%
• Interstitial Deletion 50%
• Deletion Syndrome 50%
• Severe Developmental Delay 50%
• Neurodevelopmental Abnormalities 50%
• Female Infant 50%
• Band Position 50%
• Dysmorphic Facial Features 50%
• Congenital Choledochal Cyst 50%

Medicine and Dentistry

• Kidney Malformation 100%
• Intractable Epilepsy 100%
• Developmental Delay 100%
• Microcephaly 100%
• Choledochal Cysts 100%
• Single Nucleotide Polymorphism 50%
• Arm 50%
• Facies 50%
• Haploinsufficiency 50%
• Chromosome 2 50%

Biochemistry, Genetics and Molecular Biology

• Cytogenetics 100%
• Microdeletion Syndrome 100%
• Single Nucleotide Polymorphism 50%
• Haploinsufficiency 50%
• Chromosome 2 50%