Trisomi 8 mosaikk
Også kjent som: Mosaic trisomy 8
Engelsk navn: Mosaic trisomy 8
Engelske synonym: Mosaic trisomy chromosome 8,Trisomy 8 mosaicism,Warkany syndrome
Definisjon
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
Fra Orphanet
ORPHA: 96061
Klassifiseringsnivå: Disorder
ICD-10: Q92.1
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
