Refinement of the chromosome 5p locus for craniometaphyseal dysplasia

S. Tinschert, K. Lohan, K. Harrop, J. Goldblatt, M. Nagy, S. Hummel, H.S. Braun, Nigel Laing, P. Nurnberg, D. Chandler

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


Craniometaphyseal dysplasia - Jackson type (CMDJ) is an autosomal dominant bone dysplasia with hyperostosis and sclerosis of the skull and abnormal modelling of the metaphyses, In a large German pedigree, a locus for CMDJ has been mapped previously to the short arm of chromosome 5 (5p15.2-p14.1), defining a 19-cM disease interval between markers D5S2004 and D5S502. Analysis of a large Australian pedigree together with a second German family confirms linkage to the same region. Obligate recombinations in the new families and confirmation of a supposed recombination in the previously reported German kindred have enabled us to narrow the critical region down to approximately 4 cM between markers D5S1987 and D5S1991.
Original languageEnglish
Pages (from-to)394-397
JournalHuman Genetics
Publication statusPublished - 2001


Dive into the research topics of 'Refinement of the chromosome 5p locus for craniometaphyseal dysplasia'. Together they form a unique fingerprint.

Cite this