A new interstitial deletion of 4q (q21.1::q22.1).
Open Access
- 1 October 1989
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (10) , 644-647
- https://doi.org/10.1136/jmg.26.10.644
Abstract
A unique case of de novo interstitial deletion of chromosome 4 is described involving loss of band q21. The male newborn had multiple abnormalities including frontal bossing, prominent occiput, low set ears, micrognathia, short sternum, short, broad hands and feet, agenesis of the corpus callosum, and cardiac defects. The phenotypic abnormalities are compared with other reported cases of deletion 4q involving adjacent regions.Keywords
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