Article
Isolated 6q terminal deletions: an emerging new syndrome.
American journal of medical genetics. Part A - 1 Jan 2006
Bertini Veronica, De Vito Giuseppe, Costa Rosa, Simi Paolo, Valetto Angelo
Abstract excerpt
Deletions of the distal part of the 6q chromosome have not been associated with a clearly distinctive and recognizable phenotype. In order to determine if a "6q terminal deletion syndrome" could be delineated, we compared the phenotype of two new cases with those patients reported in literature presenting with a similar deletion. Cases with more complex karyotypes were excluded. The deletion in our patients was...
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