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: A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.
    Author: Yen FS, Podruch PE, Weisskopf B.
    Journal: J Med Genet; 1989 Feb; 26(2):130-3. PubMed ID: 2918542.
    Abstract:
    A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14q (14q-) have been reported without consistent clinical findings. Although a clinical syndrome associated with ring chromosome 14, r(14), has been established, no distinct pattern has been so far reported in 14q-.
    [Abstract] [Full Text] [Related] [New Search]