Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations.

摘要

Marker chromosomes derived from X chromosome, sSMC(X), are rare and they are usually ring chromosomes. To date there are only 11 published cases, all boys, with sSMC(X) characterized by molecular cytogenetic techniques [Callen et al., 1991; Rauch et al., 1992; Duncan et al., 1993; Amiel et al., 1995; Callen et al., 1995; Manea et al., 1997; Viersbach et al., 1998; Le Caignec et al., 2003; Chen et al., 2006; Liehr et al., 2006; Koc et al., 2007].