Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Med Genet. 1986 Aug;24(4):613-22.

Duplication (12q) syndrome in female cousins, resulting from maternal (11;12) (p15.5;q24.2) translocations.

Abstract

We have studied female cousins with partial duplication of 12q. The cousins' mothers (who are sisters) and the maternal grandmother and great grandmother carried a balanced translocation between chromosomes 11 and 12. We have compared our patients with eight other reported cases of partial duplication of the same chromosome segment (12q24----12qter). Placement of the extra material seems to have little effect on the anomalies present; (only two other cases involved chromosome 11). We propose that our patients provide further evidence that duplication of 12q leads to a clinically identifiable syndrome.

PMID:
3740096
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk