The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

Figure 4

Pedigree of family in present study. Squares and circles represent males and females, respectively. Blackened symbols indicate individuals with X-linked Opitz syndrome confirmed by MID1 mutation analysis. Gray-coloured symbols indicate individuals with a suspected mild form of X-linked Opitz syndrome, not confirmed by MID1 mutation analysis. Small black dots within the circle indicate carrier state confirmed by MID1 mutation analysis. Small gray dots within the circle indicate carrier state not confirmed by MID1 mutation analysis.