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: Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.
    Author: van Balkom ID, Hagendoorn J, De Pater JM, Hennekam RC.
    Journal: Genet Couns; 1992; 3(2):83-9. PubMed ID: 1642815.
    Abstract:
    A female patient with mosaicism for partial monosomy 8p and partial trisomy 8p is presented. Her karyotype is 46,XX, del(8)(p21)/46,XX, dup(8)(p21----pter). She showed minimal dysmorphic features, agenesis of the corpus callosum and moderate developmental delay. There is no previous report of mosaicism for partial monosomy and partial trisomy 8p. The clinical findings in the presently described patient are less severe than those reported in cases with only monosomy or trisomy of the distal part of chromosome 8.
    [Abstract] [Full Text] [Related] [New Search]