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-.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 178-181 |
| Number of pages | 4 |
| Journal | American journal of medical genetics |
| Volume | 32 |
| Issue number | 2 |
| DOIs | |
| State | Published - Jan 1 1989 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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Helmuth, R. A., Weaver, D. D., & Wills, E. R. (1989). Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. American journal of medical genetics, 32(2), 178-181. https://doi.org/10.1002/ajmg.1320320207