Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome.

doi:10.1111/j.1399-0004.1993.tb03889.x

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Article

Neither uniparental disomy nor skewed X-inactivation explains Rett syndrome.

Clinical genetics - 1 Nov 1993

Webb T, Watkiss E, Woods C G

Abstract excerpt

The locus DXS255 was studied using the probe M27 beta in ten probands with Rett syndrome and in eight of their families. No evidence of uniparental disomy of the X chromosome was detected, as all informative probands had inherited an allele from each of their parents. Differential methylation of...

Topics

Alleles
Dosage Compensation, Genetic
Fathers
Female
Genetic Linkage
Humans
In Situ Hybridization, Fluorescence
Male
Mothers
Polymorphism, Restriction Fragment Length
Rett Syndrome
X Chromosome

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