Distal duplication 4q

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Distal duplication 4q

Synonyms: Distal trisomy 4q | Telomeric duplication 4q | Trisomy 4qter

Distal trisomy 4q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 4 with highly variable phenotype typically characterized by psychomotor delay intellectual disability craniofacial dysmorphism (microcephaly low-set prominent ears downslanting palpebral fissures hypertelorism epicanthic folds broad prominent nasal bridge high arched and cleft palate micro-/retrognathia) seizures as well as tooth and digital anomalies (clinodactyly polydactyly). Cardiac malformations renal anomalies cryptorchidism hypotonia and hearing impairment 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 September 2023.

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Distal duplication 4q?

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