Borjeson-Forssman-Lehmann syndrome: Clinical manifestations and gene localization to Xq26-27

G. Turner, A. Gedeon, J. Mulley, G. Sutherland, J. Rae, K. Power, I. Arthur

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57 Citations (Scopus)


We have studied 7 males in one family with mild/moderate intellectual handicap, long thick ears, deep-set eyes, small testes, and post pubertal gynecomastia. The affected males and some of the heterozygous females also had tapering fingers and short, widely spaced flexed toes. The pedigree demonstrates X-linked recessive inheritance. The clinical manifestations are similar to those described in the Borjeson-Forssman-Lehmann (BFL) syndrome but differ in the degree of mental handicap and the absence of 'dwarfism' and microcephaly. This milder manifestation may represent either phenotypic or genotypic variation. DNA marker studies demonstrated linkage to the DXS86, DXS51, and F9 cluster at Xq26-q27. The maximum lod score was 2.1 with DXS51, at Θ = 0.0. Definite recombinants were observed between DXS10 (at Xq26 but proximal to DXS86), DXS105 (at Xq27 but distal to F9), and BFL. Thus, the regional localization for BFL is Xq26-q27 between DXS10 and DXS105

Original languageEnglish
Pages (from-to)463-469
Number of pages7
JournalAmerican Journal of Medical Genetics
Issue number4
Publication statusPublished - 1 Dec 1989
Externally publishedYes


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