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 language | English (US) |
|---|---|
| Pages (from-to) | 187-192 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics |
| Volume | 10 |
| Issue number | 2 |
| DOIs | |
| State | Published - Dec 1 1981 |
| Externally published | Yes |
All Science Journal Classification (ASJC) codes
- Genetics(clinical)
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Cite this
Rosenfeld, W., Verma, R. S., Jhaveri, R. C., Estrada, R., Evans, H., & Dosik, H. (1981). Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q. American Journal of Medical Genetics, 10(2), 187-192. https://doi.org/10.1002/ajmg.1320100212