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 trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.
    Author: Rudnik-Schöneborn S, Schubert R, Majewski F, Haverkamp F, Schwanitz G.
    Journal: Clin Genet; 1997 Aug; 52(2):126-9. PubMed ID: 9298749.
    Abstract:
    Partial trisomy 6p is regarded as a distinct phenotype with short stature, failure to thrive, facial dysmorphisms with blepharophimosis, mental retardation and other malformations. An 18-month-old girl with typical features of partial trisomy 6p showed a de novo unbalanced translocation resulting in partial trisomy 6p21 to pter and partial monosomy 18p11 to pter. The translocation was observed in all fibroblasts analyzed, but only in 6% of the peripheral lymphocytes.
    [Abstract] [Full Text] [Related] [New Search]