Distal duplication 9q

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Synonyms: Distal trisomy 9q | Telomeric duplication 9q | Trisomy 9qter

Distal trisomy 9q is a rare chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9 with a variable phenotype mostly characterized by psychomotor and speech delay intellectual disability hypotonia long narrow habitus craniofacial dysmorphism (incl. micro/dolichocephaly facial asymmetry narrow palpebral fissures deep-set eyes strabismus microphthalmia abnormally shaped ears microstomia micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly camptodactyly abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.

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 July 2024

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Distal duplication 9q?

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