Interstitial deletion of 8q13.3-->22.1 associated with craniosynostosis.
We report on a 3-year-old girl who has an interstitial deletion of chromosome 8q [46,XX,del(8)(q13.3q22.1)]. She has severe mental retardation and minor anomalies in addition to lambdoidal synostosis. This is the first report of craniosynostosis in association with this chromosomal deletion. The manifestations of our patient are compared to those of previously reported patients with similar deletions.
Fryburg
J S
JS
Department of Pediatrics, University of Virginia Health Science Center, Charlottesville 22908.
Golden
W L
WL
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D003398:Craniosynostoses / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010641:Phenotype