title: Partial deletion 8q without Langer-Giedion syndrome: a recognisable syndrome.
abstract: We report two de novo cases of del(8)(pter----q24.1:) with breakpoints involving the distal part of band 8q24.1. The clinical features were similar and there were no obvious stigmata of Langer-Giedion syndrome (LGS). There are three other cases reported with a deletion of chromosome 8 at approximately the same breakpoint, one without LGS and some similarities to our cases, the other two with LGS. Our findings would support the observation that the critical segment for the assignment of LGS is proximal to or involves the proximal part of 8q24.1, but a review of published reports suggests that the aetiology of LGS may be a more complex issue.
authors.affiliation: Department of Cytogenetics, Royal Manchester Children's Hospital, Pendlebury, Manchester.
authors.forename: S J
authors.initials: SJ
authors.lastname: Fennell
authors.forename: J W
authors.initials: JW
authors.lastname: Benson
authors.forename: A D
authors.initials: AD
authors.lastname: Kindley
authors.forename: M J
authors.initials: MJ
authors.lastname: Schwarz
authors.forename: B
authors.initials: B
authors.lastname: Czepulkowski
mesh_terms: D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012640:Seizures / Q000235:genetics; D013577:Syndrome