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-.
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© 1991 Springer-Verlag Berlin Heidelberg
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Helmuth, R.A., Weaver, D.D., Wills, E.R. (1991). Holoprosencephaly, Ear Abnormalities, Congenital Heart Defect, and Microphallus in a Patient with 11q- Mosaicism. In: Matsumoto, S., Sato, K., Tamaki, N., Oi, S. (eds) Annual Review of Hydrocephalus. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-11158-1_62
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DOI: https://doi.org/10.1007/978-3-662-11158-1_62
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-11160-4
Online ISBN: 978-3-662-11158-1
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