Article
Interstitial deletion of a proximal 3p: a clinically recognisable syndrome.
Brain & development - 1 Jun 2007
Lalli Cristina, Galasso Cinzia, Lo Castro Adriana, Nardone Anna Maria, Di Paolo Ambrogio, Curatolo Paolo
Abstract excerpt
Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies, plagiocephaly, broad forehead, broad nasal bridge, long philtrum and low set ears) and psychomotor/speech delay associated with an interstitial deletion of 3p12...
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