Distal duplication 8q
Synonyms: Distal trisomy 8q | Telomeric duplication 8q | Trisomy 8qter
Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8 with a highly variable phenotype typically characterized by growth and developmental delay intellectual disability short stature craniofacial dysmorphism (microcephaly prominent forehead hypertelorism abnormal palpebral fissures low-set large ears anteverted tip of nose micro/retrognathia) congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea) cryptorchidism hypertrichosis and neurologic manifestations (e.g. hypotonia hearing loss and seizures).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023
Newly diagnosed with
Distal duplication 8q?
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