title: Further delineation of Wittwer syndrome and refinement of the mapping region.
abstract: In 1996, Wittwer et al. described a XLMR-syndrome mapping in Xp22.3. This family was reexamined. The spectrum of clinical symptoms now includes progressive skeletal lesions with osteoplastic and osteoclastic changes. Haplotype analysis using 23 microsatellite markers on Xp22 localized the disease locus between DXS8095 and DXS7108 comprising 3.9-6.1 Mb. This interval overlaps with known contiguous gene-deletion syndromes. However, deletion analysis of identified genes and ESTs in the critical interval for Wittwer syndrome showed no loss of the corresponding marker sequences in the patients.
authors.affiliation: Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.
authors.forename: Ilse
authors.initials: I
authors.lastname: Wieland
authors.forename: Petra
authors.initials: P
authors.lastname: Muschke
authors.forename: Peter
authors.initials: P
authors.lastname: Wieacker
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D041321:Chromosomes, Human, X / Q000235:genetics*; D020224:Expressed Sequence Tags; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006239:Haplotypes; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics* / Q000473:pathology; D018895:Microsatellite Repeats; D010375:Pedigree; D013577:Syndrome