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Normal male carriers of the martin-bell syndrome gene: implications for genetic counseling

Valéria R.X. Soares; Carla Rosenberg; Angela M. Vianna-Morgante; Leda Navajas

Departamento de Biologia, Instituto de Biociências, Universidade de Säo Paulo, Caixa Postal 11461, 05499 São Paulo, SP, Brasil. Send correspondence to A.M.V.-M.

ABSTRACT

The frequency of mental impairment was estimated among relatives of normal transmitting males of the MBS gene. Obligate carrier daughters of these males were found to be rarely affected, and their sibs were less likely to be mentally impaired than sibs of affected males. However, among granddaughters and grandsons of these males, the estimates of mental impairment were similar to the values obtained for daughters and sons of heterozygotes born to carrier mothers. The risks of affected offspring for fra(X)-negative possible carriers were calculated in those instances in which the gene could be transmitted through a normal male.

Keywords: male; carriers; martin-bell; syndrome; implications; counseling.

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