Hereditary 3;6 translocation : three cases of multiple malformations with partial trisomy 6p21 leads to pter.

  • 1 January 1980
    • journal article
    • Vol. 23  (3) , 173-5
Abstract
The authors report on a family with a t(3;6). All four members of a sibship were carriers of the balanced translocation and two have had children with multiple malformations. The proband, six months old, had the karyotype 46,XY, t(3;6) (p26;p21) der pat. His clinical features were typical of the trisomy 6p syndrome. HLA typing data failed demonstrate both paternal haplotypes in the propositus.

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