Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814306 | European Journal of Medical Genetics | 2012 | 5 Pages |
We report a 19 year-old patient carrying a terminal 20p microdeletion. She displayed clinical features resembling those of two other previously described patients. We suggest that a specific phenotype can be associated with this chromosomal anomaly. Mental retardation, epilepsy, and dysmorphic signs including low-set ears and overfolded helices seem highly characteristic of this syndrome and may define major diagnostic criteria of a recognizable phenotype. Delayed closure of fontanella, delayed permanent teeth eruption, visual disturbances, prominent ear lobes, prominent nasal root and ridge, thin upper lip and brachydactyly may represent inconstant minor criteria.
► We report a 19 year-old patient carrying a terminal 20p microdeletion. ► We compare her phenotype with those of 2 previously described patients. ► Mental retardation, epilepsy, and ears with overfolded helices define major diagnosis criteria.