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

17 Citations (Scopus)

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

Fingerprint

Hirsutism
Cleft Palate
Nose
Heart Diseases
Neck
Extremities
Chromosomes
Trisomy 3q Chromosome 3

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Rosenfeld, W. ; Verma, R. S. ; Jhaveri, R. C. ; Estrada, R. ; Evans, Hugh ; Dosik, H. / Duplication 3q : Severe manifestations in an infant with duplication of a short segment of 3q. In: American Journal of Medical Genetics. 1981 ; Vol. 10, No. 2. pp. 187-192.
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Duplication 3q : Severe manifestations in an infant with duplication of a short segment of 3q. / Rosenfeld, W.; Verma, R. S.; Jhaveri, R. C.; Estrada, R.; Evans, Hugh; Dosik, H.

In: American Journal of Medical Genetics, Vol. 10, No. 2, 01.12.1981, p. 187-192.

Research output: Contribution to journalArticle

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AU - Rosenfeld, W.

AU - Verma, R. S.

AU - Jhaveri, R. C.

AU - Estrada, R.

AU - Evans, Hugh

AU - Dosik, H.

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