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: Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)].
    Author: Al-Awadi SA, Farag TI, Usha R, el-Khalifa MY, Sundareshan TS, Al-Othman SA.
    Journal: Am J Med Genet; 1986 Apr; 23(4):931-3. PubMed ID: 3963055.
    Abstract:
    A severely malformed girl died 7 days after birth and was found to have de novo interstitial deletion of 1q (1q32----1q42). Clinical abnormalities included microcephaly, encephalocele, small eyes with unilateral esotropia, hypertelorism but small prominent nose, highly arched palate, micrognathia, abnormal cry, apparently abnormal low-set ears, short neck with low posterior hair line, narrow shoulders, congenital heart defect, hypoplastic nails, overlap of toes with flat feet, and single umbilical artery.
    [Abstract] [Full Text] [Related] [New Search]