title: X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.
abstract: Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.
authors.affiliation: Department of Clinical Genetics, Erasmus University/University Hospital, Rotterdam, The Netherlands. r.j.h.galjaard@kgen.fgg.eur.nl
authors.forename: R J
authors.initials: RJ
authors.lastname: Galjaard
authors.forename: N
authors.initials: N
authors.lastname: Kostakoglu
authors.forename: J J
authors.initials: JJ
authors.lastname: Hoogeboom
authors.forename: G J
authors.initials: GJ
authors.lastname: Breedveld
authors.forename: H C
authors.initials: HC
authors.lastname: van der Linde
authors.forename: S E
authors.initials: SE
authors.lastname: Hovius
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
authors.forename: A N
authors.initials: AN
authors.lastname: Akarsu
authors.forename: P
authors.initials: P
authors.lastname: Heutink
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D004247:DNA