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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.


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.

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