Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q
- 1 January 1981
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 10 (2) , 187-192
- https://doi.org/10.1002/ajmg.1320100212
Abstract
A patient with duplication of a short segment of 3q (3q21 leads to 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.Keywords
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