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

R. A. Helmuth, D. D. Weaver, E. R. Wills

Research output: Contribution to journalArticle

15 Scopus citations


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-.

Original languageEnglish (US)
Pages (from-to)178-181
Number of pages4
JournalAmerican journal of medical genetics
Issue number2
StatePublished - Jan 1 1989


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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