17q12 microdeletion syndrome

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17q12 microdeletion syndrome

Synonyms: Del(17)(q12) | Monosomy 17q12

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. Müllerian aplasia in females macrocephaly mild facial dysmorphism (high forehead deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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17q12 microdeletion syndrome?

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