title: De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
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.
authors.affiliation: Department of Medical Genetics, University Hospital Ghent, Belgium.
authors.forename: F
authors.initials: F
authors.lastname: Speleman
authors.forename: M
authors.initials: M
authors.lastname: Craen
authors.forename: J
authors.initials: J
authors.lastname: Leroy
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male