Linkage localization of Borjeson-Forssman-Lehmann syndrome

K. D. Mathews, H. H. Ardinger, D. Y. Nishimura, K. H. Buetow, J. C. Murray, J. A. Bartley

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Borjeson-Forssman-Lehmann syndrome (BFLS) is a form of X-linked mental retardation (XLMR) with characteristic minor physical anomalies. It has no biochemical or cytogenetic markers. Heterozygous females may be entirely normal or may have mild-to-moderate manifestations. We studied 41 individuals from one family with BFLS for linkage on the X chromosome. The highest lod scores were 2.32 with DXS10 and 2.24 with DXS51, both at a Θ = 0.0. A single recombinant was found between HPRT and BFLS. These results suggest that the BFLS locus is on the distal portion of Xq. Previously reported linkage studies in families with XLMR have not shown linkage with DXS10. This study suggests that one of the several X chromosome loci whose dysfunction is associated with mental retardation is located on distal Xq.

Original languageEnglish (US)
Pages (from-to)470-474
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1989
Externally publishedYes


  • X-linked mental retardation
  • facial anomalies
  • linkage analysis
  • microcephaly

ASJC Scopus subject areas

  • Genetics(clinical)


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