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: The syndrome of ring chromosome 12.
    Author: Scribanu N, McCullars EB, Baumiller RC, Colon AR.
    Journal: Am J Med Genet; 1980; 5(2):165-70. PubMed ID: 7395909.
    Abstract:
    We have studied a 13 month-old girl with failure to thrive developmental delay, and dysmorphic features. At 13 months, the weight-age was 1 month, length-age was 3 months and head circumference was at the 3rd centile for 3 months. Physical findings were: Epicanthal folds, mildly cupped, apparently low-set ears, highly arched palate, short neck with low hairline, clinodactyly, and single crease of left 5th finger. The modal chromosome number was 46. Trypsin-G banding identified a ring chromosome 12; Karyotype was 46,XX,r(12)(p13q24).
    [Abstract] [Full Text] [Related] [New Search]