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: Phenotypic features in a boy with monosomy 18 mosaicism.
    Author: Jackson KE, Tsien F, Marble M.
    Journal: Am J Med Genet; 2000 Nov 27; 95(3):229-32. PubMed ID: 11102928.
    Abstract:
    We report on a patient with mosaicism for monosomy 18, a chromosomal abnormality that has been reported only once previously. The patient had cleft lip and palate and mild behavioral and academic problems. His phenotype was milder in comparison with the previously reported patient by Khalifa et al. [1996: Clin Genet 49:318-320]. Further case reports of this chromosomal anomaly will be needed to determine a consistent phenotypic pattern to assist in management and genetic counseling.
    [Abstract] [Full Text] [Related] [New Search]