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.

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