Trisomi 22 mosaikk
Også kjent som: Mosaic trisomy 22
Engelsk navn: Mosaic trisomy 22
Engelske synonym: Mosaic trisomy chromosome 22,Trisomy 22 mosaicism
Definisjon
Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.
Fra Orphanet
ORPHA: 96068
Klassifiseringsnivå: Disorder
ICD-10: Q92.1
