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: FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16.
    Author: Phelan MC, Blackburn W, Rogers RC, Crawford EC, Cooley NR, Schrock E, Ning Y, Ried T.
    Journal: Prenat Diagn; 1998 Nov; 18(11):1174-80. PubMed ID: 9854728.
    Abstract:
    We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-banding for characterization of the abnormal chromosomes. The 22-week female fetus showed minor dysmorphic features including dolichocephaly, broad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement.
    [Abstract] [Full Text] [Related] [New Search]