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: Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.
    Author: Sarda P, Lefort G, Devaux P, Humeau C, Rieu D.
    Journal: Ann Genet; 1992; 35(2):117-20. PubMed ID: 1524409.
    Abstract:
    It has been suggested that partial distal 2p2----2pter duplication causes a relatively well defined clinical syndrome, mostly as regards craniofacial dysmorphism, musculoskeletal and genitalia anomalies. Duplications covering a larger portion of 2p i.e. 2p12 or 2p13----2pter are however less documented. The authors report a new case of partial 2p13----2pter duplication which supplies further evidence for short life expectancy due to the large number of malformations in these partial duplications.
    [Abstract] [Full Text] [Related] [New Search]