Distal duplication 11q
Synonyms: Distal trisomy 11q | Telomeric duplication 11q | Trisomy 11qter
Distal trisomy 11q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 11 with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly low-set posteriorly rotated ears short philtrum micrognathia) and intellectual disability. Short stature and seizures as well as cardiac (e.g. atrial septal defect) skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity sensorineural hearing loss expressive language deficiency) and neuropsychiatric disorders (autistic features auditory hallucination self-talking) 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 May 2024
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Distal duplication 11q?
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