Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q–mosaicism

Publisher Website
Google Scholar
Abstract
We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q–syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q–syndrome. We discuss the above points and review the literature on 11q–.