Distal duplication 3p

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Distal duplication 3p

Synonyms: Distal trisomy 3p | Telomeric duplication 3p | Trisomy 3pter

Distal trisomy 3p is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 3 with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly square facies frontal bossing bitemporal indentation hypertelorism/telecanthus low-set and/or dysmorphic ears short nose with broad flat nasal bridge prominent cheeks and philtrum downturned corners of mouth micrognathia/retrognathia short neck) associated with psychomotor delay moderate to severe intellectual disability cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia hypogenitalism) abnormalities as well as seizures and presence of whorls on fingers.

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 December 2023

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Distal duplication 3p?

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