title: Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
abstract: A contiguous gene syndrome due to deletions of the proximal short arm of chromosome 11 is described in eight patients belonging to four families. The main clinical features are multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation. The patients have cytogenetic and/or molecular deletions of chromosome 11p11-p13. These deletions are located between the centromere and D11S914 in a region of approximately 20cM. The present study confirms the presence of a multiple exostoses gene on chromosome 11p. Furthermore, it suggests that the gene for isolated foramina parietalie permagna and genes associated with craniofacial dysostosis and mental retardation reside in the same chromosomal region.
authors.affiliation: Department of Clinical Genetics, University Hospital Dresden, Germany.
authors.forename: O
authors.initials: O
authors.lastname: Bartsch
authors.forename: W
authors.initials: W
authors.lastname: Wuyts
authors.forename: W
authors.initials: W
authors.lastname: Van Hul
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
authors.forename: D
authors.initials: D
authors.lastname: Hogue
authors.forename: W
authors.initials: W
authors.lastname: Werner
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: G K
authors.initials: GK
authors.lastname: Hinkel
authors.forename: C M
authors.initials: CM
authors.lastname: Powell
authors.forename: L G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003394:Craniofacial Dysostosis / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010294:Parietal Bone / Q000002:abnormalities*; D013577:Syndrome