Mosaic trisomy 1
Synonyms: Mosaic trisomy chromosome 1 | Trisomy 1 mosaicism
A rare autosomal trisomy characterized by reduced fetal movements and intrauterine growth retardation low birth weight and multiple congenital anomalies. The latter include amongst others facial dysmorphism (like hypertelorism cleft lip/palate micrognathia low hairline and small low-set and posteriorly rotated ears) head circumference below average deformities of the hands (camptodactyly) and feet marked hypertrichosis and anomalies of the brain heart and lungs. Lethality appears to depend on the degree of mosaicism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023
Newly diagnosed with
Mosaic trisomy 1?
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