Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).

  title={Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).},
  author={Maria Luisa Brandi and G{\"u}nther Weber and Ann Svensson and Alberto Falchetti and Fr Tonelli and Roberto Castello and L Furlani and Susi Scappaticci and Marco Fraccaro and Catharina Larsson},
  journal={American journal of human genetics},
  volume={53 6},
Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the three siblings and their parents and relatives were genotyped for 12 markers tightly linked to the MEN1 locus, at 11q13, two of the siblings were found to be homozygotes, and one a… CONTINUE READING