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Mosaic trisomy 16

Disease definition

Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay.

ORPHA:1708

Classification level: Disorder
  • Synonym(s):
    • Mosaic trisomy chromosome 16
    • Trisomy 16 mosaicism
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q92.1
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.