Skip to main content

Table 2 The X chromosome inactivation patterns obtained from AR assays

From: Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

AR assay

Family A, I:1

A270:A273 (12:88)

Family B, I:1

A271:A277 (51:49)

Family A, II:1

A270:A273 (56:44)

Family B, II:2

A274:A277 (46:54)

Family A, II:2

A270:A273 (63:37)

Family B, II:3

A269:A271 (20:80)

  1. The alleles (A) are indicated with the size of the PCR fragments in base pair. The allele sizes in Family B, indicates the presence of a recombination event. Note that the two half-sisters in family B, does not have the same father.
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172