Distal duplication 8q

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023

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Distal duplication 8q?

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