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: Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1).
    Author: L'Herminé AC, Aboura A, Simon-Bouy B, Robin F, Audibert F, Strouk N, Capron F, Frydman R, Tachdjian G.
    Journal: Prenat Diagn; 2002 Aug; 22(8):652-5. PubMed ID: 12210571.
    Abstract:
    Interstitial deletions of chromosomal region 9q are rarely seen. We report the first prenatal diagnosis of a de novo interstitial deletion 9q. The fetus was karyotyped for intrauterine growth retardation (IUGR). Conventional and molecular cytogenetics showed female karyotype with a de novo deletion of the chromosomal region 9(q22.2q31.1) leading to a partial monosomy 9q. At autopsy, the fetus showed growth retardation, dysmorphy, and a female pseudohermaphroditism. These results suggest that a gene(s) for genital development reside in chromosomal region 9q22.2q31.1.
    [Abstract] [Full Text] [Related] [New Search]