Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?

Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, Dorothée Cailley, Julie Bouron, Frédéric Villega, Emmanuelle Taupiac, Didier Lacombe, Benoît Arveiler, Cyril Goizet
European Journal of Medical Genetics. 2012-02-01; 55(2): 151-155
DOI: 10.1016/j.ejmg.2011.12.009


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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.

Auteurs Bordeaux Neurocampus