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