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Holoprosencephaly, Ear Abnormalities, Congenital Heart Defect, and Microphallus in a Patient with 11q- Mosaicism

  • Robin A. Helmuth
  • David D. Weaver
  • Edward R. Wills

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-.

Key words

Mosaic del (11q) 11q- Holoprosencephaly 

Copyright information

© Springer-Verlag Berlin Heidelberg 1991

Authors and Affiliations

  • Robin A. Helmuth
    • 1
  • David D. Weaver
    • 2
  • Edward R. Wills
    • 1
  1. 1.Department of PathologyMethodist Hospital of IndianaIndianapolisUSA
  2. 2.Department of Medical GeneticsIndiana University School of MedicineIndianapolisUSA

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