A new case of partial trisomy of the short arm of chromosome 8 which arose de novo by mirror duplication is described. A comparison with similar cases reported makes it possible to define a characteristic pattern of clinical signs and symptoms including enlarged, detached and dysmorphic auricles, large fleshy-lipped mouth turned down at the corners, widely-spaced teeth, and anomalies in the vertebral column.
|Translated title of the contribution||A new case of partial 8p trisomy|
|Number of pages||4|
|Publication status||Published - 1981|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health