Pedigree of the family and haplotype segregation within the FMR1 locus. Black square (IV-4) or circles (III-6 and III-9) indicate carriers of MFM. The gray square (III-1) indicates a relative with ID of unknown origin. Individuals tested for the FMR1 expansion are indicated by a dash above their symbol, while the boxed haplotypes refer to the X chromosome with an expanded CGG (PM/FM). On the left side the polymorphic markers (CGG, DXS548, and FRAXAC1) are reported. Asterisks indicate females who were tested for XCI and evaluated with neuropsychological tests
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