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

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

Research output: Contribution to journalArticle

15 Citations (Scopus)

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 languageEnglish
Pages (from-to)178-181
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume32
Issue number2
StatePublished - 1989

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Holoprosencephaly
Mosaicism
Congenital Heart Defects
Ear
Newborn Infant
Cyclopia

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. / Helmuth, R. A.; Weaver, David; Wills, E. R.

In: American Journal of Medical Genetics, Vol. 32, No. 2, 1989, p. 178-181.

Research output: Contribution to journalArticle

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