Mosaic trisomy 7

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Synonyms: Mosaic trisomy chromosome 7 | Trisomy 7 mosaicism

Mosaic trisomy 7 is a rare chromosomal anomaly syndrome with a highly variable phenotype mostly characterized by blaschkolinear skin pigmentary dysplasia body asymmetry enamel dysplasia and developmental and growth delay. Intellectual disability facial dysmorphism (e.g. frontal bossing abnormal palpebral fissures strabismus abnormally shaped ears and micrognathia) and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7 resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations 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 June 2024

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Mosaic trisomy 7?

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