Common Genetic Syndromes

Top 20 Syndromes

Chromosome microdeletions

• Angelman Syndrome
• DiGeorge\VCF (22q deletion)
• Prader-Willi Syndrome
• Williams Syndrome

Chromosome aneuploides

• Down Syndrome
• Klinefelter Syndrome (XXY)
• Trisomy 18 and Trisomy 13
• Turner Syndrome (45,X)

Single gene conditions and other disorders

• Ehlers-Danlos Syndrome
• Fragile X Syndrome
• Marfan Syndrome
• Neurofibromatosis type 1
• Noonan Syndrome
• Osteogenesis Imperfecta

• Phenylketonuria (PKU)
• Rett Syndrome
• Smith-Lemli-Opitz Syndrome
• Tuberous Sclerosis
• Fetal Alcohol Syndrome
• Russell-Silver Syndrome