17p11.2 microduplication syndrome

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17p11.2 microduplication syndrome

Synonyms: Potocki-Lupski syndrome | Trisomy 17p11.2

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 17 typically characterized by hypotonia poor feeding failure to thrive developmental delay (particularly cognitive and language deficits) mild-moderate intellectual deficit and neuropsychiatric disorders (behavioral problems anxiety attention deficit hyperactivity disorder autistic spectrum disorder bipolar disorder). Structural cardiovascular anomalies (dilated aortic root bicommissural aortic valve atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

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 October 2023.

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17p11.2 microduplication syndrome?

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