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 the proximal region of the long arm of chromosome 18, del(18q12) a distinct clinical entity? A report of two new cases.
    Author: Poissonnier M, Turleau C, Olivier-Martin M, Milleret-Proyart MJ, Prieur M, Dubos M, Cabanis MO, Mugneret F, Blanc P, Noel L.
    Journal: Ann Genet; 1992; 35(3):146-51. PubMed ID: 1466563.
    Abstract:
    Two unrelated mentally retarded patients were found to have an interstitial deletion of 18q12. They were a 2-year-old, short, macrocephalic and autistic girl, and a 5-year-old boy. Six other liveborn patients with comparable deletion have been so far identified. The common findings are mild dysmorphic features (telecanthus, epicanthal folds, flaring eyebrows, small mouth with thin upper lip), hypotonia, behavioural disorders, mental retardation with speech delay and lack of major malformation.
    [Abstract] [Full Text] [Related] [New Search]