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Ann Genet. 2003 Jan-Mar;46(1):49-52.

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

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

Abstract

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.

PMID:
12818530
[PubMed - indexed for MEDLINE]
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