Mosaic trisomy 4

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Synonyms: Mosaic trisomy chromosome 4 | Trisomy 4 mosaicism

Mosaic Trisomy 4 is a rare autosomal anomaly due to the presence of an extra copy of chromosome 4 in a fraction of all cells with a variable phenotype characterized by intrauterine growth retardation low birth weight/length/OFC mild intellectual deficit congenital heart defects hypertrophic cardiomyopathy dysmorphic features (asymmetry of the face eyebrow anomalies low-set posteriorally rotated dysplastic ears micro-/retrognathia) characteristic thumb abnormalities (aplasia hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.

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 June 2024

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Mosaic trisomy 4?

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