Interstitial deletion of a proximal 3p: A clinically recognisable syndrome

Autor: Adriana Lo Castro, Anna Maria Nardone, Ambrogio Di Paolo, C. Lalli, Paolo Curatolo, Cinzia Galasso
Rok vydání: 2007
Předmět:
Zdroj: Brain and Development. 29:312-316
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2006.09.014
Popis: 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 chromosomal band, del(3)(p12p12). Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome.
Databáze: OpenAIRE
Popis
Abstrakt: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 chromosomal band, del(3)(p12p12). Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome.
ISSN:03877604
DOI:10.1016/j.braindev.2006.09.014