Trisomy 9p

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Synonyms: Duplication 9p | Duplication of the short arm of chromosome 9 | Trisomy of the short arm of chromosome 9

Trisomy 9p is a rare chromosomal anomaly syndrome resulting from a partial or complete trisomy of the short arm of chromosome 9 with a wide phenotypic variablility typically characterized by intellectual disability craniofacial dysmorphism (e.g. microcephaly large anterior fontanel hypertelorism strabismus downslanting palpebral fissures malformed low-set protruding ears bulbous nose macrostomia down-turned corners of mouth micrognathia) digital anomalies (brachydactyly and clinodactyly) and short stature. Less frequently patients present with cardiopathy and renal skeletal and central nervous system malformations.

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 Data version July 2024

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Trisomy 9p?

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