These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Interstitial deletion of a proximal 3p: a clinically recognisable syndrome.
    Author: Lalli C, Galasso C, Lo Castro A, Nardone AM, Di Paolo A, Curatolo P.
    Journal: Brain Dev; 2007 Jun; 29(5):312-6. PubMed ID: 17125947.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]