De novo terminal deletion 7p22.1--pter in a child without craniosynostosis. |
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| Authors: | F Speleman M Craen J Leroy |
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| Affiliation: | Department of Medical Genetics, University Hospital Ghent, Belgium. |
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| 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. |
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