17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.
Comprehensive, easy-to-understand information about this condition
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The 17q12 Foundation creates a community for those affected by 17q12 syndromes while raising awareness and encouraging research. Through diligent networking and advocacy, the Foundation raises awareness, provides up-to-date information, and facilitates resources to affected individuals and families.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.