De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
- 1 August 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (8), 528-532
- https://doi.org/10.1136/jmg.26.8.528
Abstract
A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.Keywords
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