Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q

W. Rosenfeld, R. S. Verma, R. C. Jhaveri, R. Estrada, Hugh Evans, H. Dosik

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

A patient with duplication of a short segment of 3q (3q21→26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.

Original languageEnglish (US)
Pages (from-to)187-192
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume10
Issue number2
DOIs
StatePublished - Dec 1 1981
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

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