Trisomy 8p
Synonyms: Duplication 8p
Trisomy 8p is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 8 with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay neonatal hypotonia short stature profound intellectual disability mild dysmorphic features (e.g. mild ptosis hypertelorism down-slanting palpebral fissures broad nasal bridge short prominent philtrum abnormal dentition) and structural brain abnormalities. Autism epilepsy and spastic paraplegia 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 April 2024
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Trisomy 8p?
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