Send to

Choose Destination
See comment in PubMed Commons below
Ann Genet. 2003 Jan-Mar;46(1):49-52.

Interstitial "de novo" tandem duplication of 7(q31.1-q35): first reported case.

Author information

  • 1Medical Genetics Service, IRCCS-CSS Hospital, 71013 (Fg), San Giovanni Rotondo, Italy. <>


A patient carrying a de novo 7q31-35 duplication is presented. The tandem duplication was confirmed by FISH analysis. The case seems to be the first in the literature and, in spite of the large size of the duplicated region, he shows mild facial dysmorphism and a moderate mental retardation. The clinical findings of the dup7q published cases are compared in order to define a possible common phenotype.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk