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: Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis.
    Author: Sifakis S, Anagnostopoulou K, Plastira K, Vrachnis N, Konstantinidou A, Sklavounou E.
    Journal: Birth Defects Res A Clin Mol Teratol; 2012 Apr; 94(4):245-8. PubMed ID: 22282126.
    Abstract:
    Coexistence of XX/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv9[47]/47,XY,+13[13] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera.
    [Abstract] [Full Text] [Related] [New Search]