Distal duplication 9q
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 April 2024
Newly diagnosed with
Distal duplication 9q?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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