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Mosaic trisomy 7

Disease definition

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.

ORPHA:1747

Classification level: Disorder
  • Synonym(s):
    • Mosaic trisomy chromosome 7
    • Trisomy 7 mosaicism
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q92.1
  • OMIM: -
  • UMLS: C2931631
  • MeSH: C537822
  • GARD: 5354
  • MedDRA: -
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